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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GYPB

Variant:p.E13A

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

Selected Variant

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

Surrounding Variants

2 papers

chr4:144001265 G>A

NM_002100.6

p.A19V

c.56C>T

Glycophorin_A

Exome: 0.0% (AC=23, hom=2)Genome: 0.0% (AC=21, hom=0)66 overlapping SVs

2 papers

chr4:144001262 A>C

NM_002100.6

p.L20*

c.59T>G

Glycophorin_A

Exome: 0.1% (AC=752, hom=63)Genome: 1.3% (AC=2019, hom=149)66 overlapping SVs

1 paper

chr4:144001262 A>G

NM_002100.6

p.L20S

c.59T>C

Glycophorin_A

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=3, hom=0)66 overlapping SVs

1 paper

chr4:144001261 T>C

NM_002100.6

p.L20L

c.60A>G

Glycophorin_A

Exome: 0.1% (AC=739, hom=62)Genome: 1.3% (AC=2019, hom=149)66 overlapping SVs

1 paper

chr4:144001260 T>G

NM_002100.6

p.S21R

c.61A>C

Glycophorin_A

Exome: 0.0% (AC=25, hom=0)Genome: 0.0% (AC=30, hom=2)66 overlapping SVs

1 paper

chr4:144001259 C>T

NM_002100.6

p.S21N

c.62G>A

Glycophorin_A

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

1 paper

chr4:144001258 A>C

NM_002100.6

p.S21R

c.63T>G

Glycophorin_A

exact variant not in gnomAD66 overlapping SVs

1 paper

chr4:144001258 A>T

NM_002100.6

p.S21R

c.63T>A

Glycophorin_A

exact variant not in gnomAD66 overlapping SVs

2 papers

chr4:144001257 T>A

NM_002100.6

p.T22S

c.64A>T

Glycophorin_A

exact variant not in gnomAD66 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

1 paper

chr4:144001251 C>T

NM_002100.6

p.E24K

c.70G>A

Glycophorin_A

exact variant not in gnomAD66 overlapping SVs

2 papers

chr4:144001250 T>C

NM_002100.6

p.E24G

c.71A>G

Glycophorin_A

Exome: 0.0% (AC=708, hom=56)Genome: 1.3% (AC=2010, hom=147)66 overlapping SVs

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