Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.E143_G144insFs

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.E143_G144insFs
c.429_430insT
Surrounding Variants
6 papers
NM_004429.5
p.G144delFs
c.432delG
1 paper
NM_004429.5
p.L145fs
c.433_434fs
1 paper
NM_004429.5
p.E149delFs
c.445delG
1 paper
NM_004429.5
p.R148delFs
c.443_444delGG
2 papers
NM_004429.5
p.E149_G150delFs
c.445_449del5
1 paper
NM_004429.5
p.N139D
c.415A>G
1 paper
NM_004429.5
p.N139fs
c.415_416fs
1 paper
NM_004429.5
p.N139delFs
c.415delA
1 paper
NM_004429.5
p.E149_G151del3
c.445_452del9
2 papers
NM_004429.5
p.S138F
c.413C>T
2 papers
NM_004429.5
p.E149*
c.445G>T
1 paper
NM_004429.5
p.E149fs
c.445_446fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."