Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.Y404C

EPHB2

2,780 papers

RefSeq Summary

This gene encodes a member of the Eph receptor family of receptor tyrosine kinase transmembrane glycoproteins. These receptors are composed of an N-terminal glycosylated ligand-binding domain, a trans...

Pfam Domains

Ephrin_lbdaa 21–197UCSCEphrin receptor ligand binding domain
Ephrin_CRDaa 198–256UCSCEphrin cysteine rich domain
Ephrin_rec_likeaa 260–304UCSCTyrosine-protein kinase ephrin type A/B receptor-like
fn3aa 326–427UCSCFibronectin type III domain
fn3aa 434–526UCSCFibronectin type III domain
EphA2_TMaa 544–618UCSCEphrin type-A receptor 2 transmembrane domain

Gene Aliases

HGNC Name

EPH receptor B2

HGNC Previous Symbols

DRT; ERK; EPHT3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017449.5
p.Y404C
c.1211A>G
Surrounding Variants
1 paper
NM_017449.5
p.Q403*
c.1207C>T
1 paper
NM_017449.5
p.T405T
c.1215C>T
1 paper
NM_017449.5
p.T402T
c.1206C>G
1 paper
NM_017449.5
p.T402S
c.1205C>G
1 paper
NM_017449.5
p.F406S
c.1217T>C
1 paper
NM_017449.5
p.E407Q
c.1219G>C
1 paper
NM_017449.5
p.A400fs
c.1198_1199fs
1 paper
NM_017449.5
p.H401_T402del0
c.1201_1206del6
1 paper
NM_017449.5
p.L399P
c.1196T>C
1 paper
NM_017449.5
p.A410T
c.1228G>A
2 papers
NM_017449.5
p.D397_L398insFs
c.1191_1192insG
1 paper
NM_017449.5
p.N412Y
c.1234A>T
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