Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GYPB

GYPB

98 papers

RefSeq Summary

Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. GYPB gene consists of 5 exons an...

Pfam Domains

Glycophorin_Aaa 6–91UCSCGlycophorin A

Gene Aliases

HGNC Name

glycophorin B

HGNC Alias Symbols

GPB; CD235b; PAS-3

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 71 variants

19 papers

chr4:143999443 G>A

NM_002100.6

p.T48M

c.143C>T

Glycophorin_A

Exome: 29.2% (AC=391865, hom=60365)Genome: 27.5% (AC=41518, hom=6563)65 overlapping SVs

15 papers

chr4:143997580 G>A

NM_002100.6

p.T77M

c.230C>T

Glycophorin_A

Exome: 0.0% (AC=156, hom=3)Genome: 0.1% (AC=165, hom=7)65 overlapping SVs

14 papers

chr4:144001283 T>G

NM_002100.6

p.E13A

c.38A>C

Glycophorin_A

Exome: 3.0% (AC=32184, hom=25)Genome: 0.0% (AC=18, hom=0)66 overlapping SVs

9 papers

chr4:143997535 C>A

NM_002100.6

p.K90_A91Splc

c.270+5G>T

Exome: 0.1% (AC=1153, hom=62)Genome: 0.9% (AC=1314, hom=104)66 overlapping SVs

6 papers

chr4:143999425 C>T

NM_002100.6

p.R54H

c.161G>A

Glycophorin_A

Exome: 0.0% (AC=273, hom=1)Genome: 0.0% (AC=23, hom=0)65 overlapping SVs

5 papers

chr4:143999413 G>C

NM_002100.6

p.P58R

c.173C>G

Glycophorin_A

Exome: 0.0% (AC=64, hom=1)Genome: 0.0% (AC=9, hom=0)65 overlapping SVs

5 papers

chr4:143997602 C>A

NM_002100.6

p.V70L

c.208G>T

Glycophorin_A

Exome: 0.0% (AC=637, hom=5)Genome: 0.1% (AC=182, hom=7)65 overlapping SVs

4 papers

chr4:144001256 G>C

NM_002100.6

p.T22S

c.65C>G

Glycophorin_A

Exome: 0.3% (AC=4011, hom=40)Genome: 0.3% (AC=519, hom=6)66 overlapping SVs

3 papers

chr4:143999422 A>C

NM_002100.6

p.F55C

c.164T>G

Glycophorin_A

Exome: 0.0% (AC=6, hom=0)Genome: 0.0% (AC=1, hom=0)65 overlapping SVs

3 papers

chr4:143999420 T>A

NM_002100.6

p.T56S

c.166A>T

Glycophorin_A

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=0, hom=0)65 overlapping SVs

3 papers

chr4:143999419 G>C

NM_002100.6

p.T56S

c.167C>G

Glycophorin_A

exact variant not in gnomAD65 overlapping SVs

3 papers

chr4:143997590 T>C

NM_002100.6

p.I74V

c.220A>G

Glycophorin_A

Exome: 0.0% (AC=13, hom=0)Genome: 0.0% (AC=3, hom=0)65 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."