Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.W19*

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
4 papers
NM_004429.5
p.W19*
c.57G>A
Surrounding Variants
2 papers
NM_004429.5
p.W19*
c.56G>A
1 paper
NM_004429.5
p.C22delFs
c.65delG
1 paper
NM_004429.5
p.C22*
c.66C>A
1 paper
NM_004429.5
p.A15fs
c.43_44fs
1 paper
NM_004429.5
p.A15delFs
c.43delG
1 paper
NM_004429.5
p.V14M
c.40G>A
1 paper
NM_004429.5
p.W12*
c.36G>A
1 paper
NM_004429.5
p.W12*
c.35G>A
5 papers
NM_004429.5
p.P27R
c.80C>G
1 paper
NM_004429.5
p.L28fs
c.82_83fs
1 paper
NM_004429.5
p.K11fs
c.31_32fs
1 paper
NM_004429.5
p.L28insFs
c.84dupG
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