Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GYPA

GYPA

163 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. In addition to the M or N and S ...

Pfam Domains

Glycophorin_Aaa 34–146UCSCGlycophorin A

Gene Aliases

HGNC Name

glycophorin A

HGNC Alias Symbols

CD235a; PAS-2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 98 variants

8 papers

chr4:144120567 A>G

NM_002099.8

p.L20S

c.59T>C

Exome: 32.1% (AC=243196, hom=86675)Genome: 45.5% (AC=49435, hom=12545)67 overlapping SVs

4 papers

chr4:144120539 A>T

NM_002099.8

p.T29T

c.87T>A

exact variant not in gnomAD66 overlapping SVs

4 papers

chr4:144118745 C>A

NM_002099.8

p.R80S

c.240G>T

Glycophorin_A

Exome: 0.0% (AC=47, hom=0)Genome: 0.0% (AC=5, hom=0)67 overlapping SVs

3 papers

chr4:144120588 T>G

NM_002099.8

p.E13A

c.38A>C

Exome: 93.8% (AC=1179609, hom=553741)Genome: 91.2% (AC=122691, hom=57167)67 overlapping SVs

3 papers

chr4:144120555 T>C

NM_002099.8

p.E24G

c.71A>G

Exome: 20.1% (AC=177678, hom=62723)Genome: 45.2% (AC=47452, hom=11829)67 overlapping SVs

3 papers

chr4:144119715 C>G

NM_002099.8

p.R68T

c.203G>C

Glycophorin_A

Exome: 0.0% (AC=80, hom=0)Genome: 0.0% (AC=12, hom=1)66 overlapping SVs

3 papers

chr4:144119706 T>G

NM_002099.8

p.Y71S

c.212A>C

Glycophorin_A

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=12, hom=1)66 overlapping SVs

3 papers

chr4:144119686 C>T

NM_002099.8

p.G78R

c.232G>A

Glycophorin_A

Exome: 0.0% (AC=21, hom=0)Genome: 0.0% (AC=1, hom=0)66 overlapping SVs

2 papers

chr4:144120570 G>T

NM_002099.8

p.A19E

c.56C>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a67 overlapping SVs

2 papers

chr4:144120561 G>A

NM_002099.8

p.T22I

c.65C>T

Exome: 0.0% (AC=1, hom=0)Genome: n/a67 overlapping SVs

2 papers

chr4:144120554 C>A

NM_002099.8

p.E24D

c.72G>T

Exome: 20.0% (AC=178520, hom=62542)Genome: 45.1% (AC=47062, hom=11689)67 overlapping SVs

2 papers

chr4:144120554 C>G

NM_002099.8

p.E24D

c.72G>C

Exome: 0.0% (AC=0, hom=0)Genome: n/a67 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."