Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.I112V

EFNB1

132 papers

RefSeq Summary

The protein encoded by this gene is a type I membrane protein and a ligand of Eph-related receptor tyrosine kinases. It may play a role in cell adhesion and function in the development or maintenance ...

Pfam Domains

Ephrinaa 28–164UCSCEphrin

Gene Aliases

HGNC Name

ephrin B1

HGNC Previous Symbols

EPLG2; CFNS

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004429.5
p.I112V
c.334A>G
Surrounding Variants
5 papers
NM_004429.5
p.T111I
c.332C>T
2 papers
NM_004429.5
p.K113*
c.337A>T
4 papers
NM_004429.5
p.K113N
c.339G>C
4 papers
NM_004429.5
p.K113N
c.339G>T
1 paper
NM_004429.5
p.R109insFs
c.325_326insA
1 paper
NM_004429.5
p.R109fs
c.325_326fs
2 papers
NM_004429.5
p.R109C
c.325C>T
1 paper
NM_004429.5
p.R109fs
c.325_326fs
3 papers
NM_004429.5
p.Q115P
c.344A>C
2 papers
NM_004429.5
p.R109delFs
c.325delC
3 papers
NM_004429.5
p.I108insFs
c.324dupA
3 papers
NM_004429.5
p.E116*
c.346G>T
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