Varaico: Literature-Extracted Genetic Variants

Gene:ERMAP
Variant:p.G263E

ERMAP

86 papers

RefSeq Summary

The protein encoded by this gene is a cell surface transmembrane protein that may act as an erythroid cell receptor, possibly as a mediator of cell adhesion. Polymorphisms in this gene are responsible...

Pfam Domains

V-setaa 37–144UCSCImmunoglobulin V-set domain
PRYaa 240–288UCSCSPRY-associated domain
SPRYaa 292–408UCSCSPRY domain

Gene Aliases

HGNC Name

erythroblast membrane associated protein

HGNC Alias Symbol

BTN5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
5 papers
NM_001017922.2
p.G263E
c.788G>A
Surrounding Variants
2 papers
NM_001017922.2
p.C259R
c.775T>C
1 paper
NM_001017922.2
p.P268L
c.803C>T
1 paper
NM_001017922.2
p.S254P
c.760T>C
2 papers
NM_001017922.2
p.V279I
c.835G>A
1 paper
NM_001017922.2
p.T246I
c.737C>T
1 paper
NM_001017922.2
p.T241P
c.721A>C
1 paper
NM_001017922.2
p.Y298H
c.892T>C
1 paper
NM_001017922.2
p.K304R
c.911A>G
1 paper
NM_001017922.2
p.W305*
c.914G>A
1 paper
NM_001017922.2
p.W305*
c.915G>A
1 paper
NM_001017922.2
p.E312Q
c.934G>C
1 paper
NM_001017922.2
p.G318G
c.954G>C
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