Varaico: Literature-Extracted Genetic Variants

Gene:ERMAP
Variant:p.R117C

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
2 papers
NM_001017922.2
p.R117C
c.349C>T
Surrounding Variants
1 paper
NM_001017922.2
p.R117H
c.350G>A
1 paper
NM_001017922.2
p.V116M
c.346G>A
1 paper
NM_001017922.2
p.L118P
c.353T>C
1 paper
NM_001017922.2
p.L111P
c.332T>C
1 paper
NM_001017922.2
p.Y124_R125del2
c.370_374del6
1 paper
NM_001017922.2
p.L127P
c.380T>C
1 paper
NM_001017922.2
p.E106Q
c.316G>C
1 paper
NM_001017922.2
p.D103fs
c.307_308fs
1 paper
NM_001017922.2
p.N132S
c.395A>G
1 paper
NM_001017922.2
p.D103delFs
c.307_308delGA
2 papers
NM_001017922.2
p.T138A
c.412A>G
1 paper
NM_001017922.2
p.V139M
c.415G>A
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