Varaico: Literature-Extracted Genetic Variants

Gene:EFNB1
Variant:p.T188fs

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.T188fs
c.562_563fs
Surrounding Variants
2 papers
NM_004429.5
p.T188insFs
c.564dupT
1 paper
NM_004429.5
p.N187fs
c.559_560fs
1 paper
NM_004429.5
p.V189fs
c.565_566fs
1 paper
NM_004429.5
p.V189fs
c.565_566fs
1 paper
NM_004429.5
p.D186fs
c.556_557fs
1 paper
NM_004429.5
p.A185_V189Fs
c.553_566delinsGFs
1 paper
NM_004429.5
p.E184fs
c.550_551fs
1 paper
NM_004429.5
p.E184delFs
c.550delG
2 papers
NM_004429.5
p.S182R
c.546C>A
2 papers
NM_004429.5
p.S182R
c.546C>G
2 papers
NM_004429.5
p.S182R
c.544A>C
1 paper
NM_004429.5
p.P196delFs
c.587delC
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