Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.L40F

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.L40F
c.118C>T
Surrounding Variants
1 paper
NM_004429.5
p.S39fs
c.115_116fs
2 papers
NM_004429.5
p.N41K
c.123C>A
5 papers
NM_004429.5
p.N41K
c.123C>G
2 papers
NM_004429.5
p.W37*
c.111G>A
5 papers
NM_004429.5
p.W37*
c.110G>A
1 paper
NM_004429.5
p.W37R
c.109T>A
1 paper
NM_004429.5
p.W37R
c.109T>C
6 papers
NM_004429.5
p.W37G
c.109T>G
1 paper
NM_004429.5
p.K43Splc
c.128+1G>C
1 paper
NM_004429.5
p.K43Splc
c.128+2T>A
1 paper
NM_004429.5
p.K43Splc
c.128+2T>G
1 paper
NM_004429.5
p.K43Splc
c.128+5G>A
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