Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.V99delins

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
2 papers
NM_004429.5
p.V99delins
c.296_297delinsGGTGCTCG
Surrounding Variants
1 paper
NM_004429.5
p.T100fs
c.298_299fs
2 papers
NM_004429.5
p.L98S
c.293T>C
1 paper
NM_004429.5
p.N96Y
c.286A>T
1 paper
NM_004429.5
p.E105*
c.313G>T
1 paper
NM_004429.5
p.T91fs
c.271_272fs
1 paper
NM_004429.5
p.T91delFs
c.272_273delCA
3 papers
NM_004429.5
p.I108insFs
c.324dupA
2 papers
NM_004429.5
p.R109delFs
c.325delC
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
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