Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.Q423Q

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
7 papers
NM_017449.5
p.Q423Q
c.1269G>A
Surrounding Variants
1 paper
NM_017449.5
p.Q423P
c.1268A>C
1 paper
NM_017449.5
p.F424_V427del4
c.1270_1280del12
1 paper
NM_017449.5
p.F424L
c.1270T>C
1 paper
NM_017449.5
p.Q423*
c.1267C>T
1 paper
NM_017449.5
p.F424L
c.1272C>A
1 paper
NM_017449.5
p.F424L
c.1272C>G
1 paper
NM_017449.5
p.P422fs
c.1264_1265fs
1 paper
NM_017449.5
p.S421*
c.1262C>A
1 paper
NM_017449.5
p.S421L
c.1262C>T
2 papers
NM_017449.5
p.S426C
c.1277C>G
1 paper
NM_017449.5
p.S421A
c.1261T>G
1 paper
NM_017449.5
p.V427M
c.1279G>A
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