Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.T690I

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.T690I
c.2069C>T
Surrounding Variants
1 paper
NM_017449.5
p.T690T
c.2070C>A
1 paper
NM_017449.5
p.V689M
c.2065G>A
1 paper
NM_017449.5
p.S692N
c.2075G>A
1 paper
NM_017449.5
p.E700V
c.2099A>T
1 paper
NM_017449.5
p.E700D
c.2100G>C
1 paper
NM_017449.5
p.E700D
c.2100G>T
1 paper
NM_017449.5
p.H679_P680insFs
c.2037_2038insT
1 paper
NM_017449.5
p.H679N
c.2035C>A
1 paper
NM_017449.5
p.D678D
c.2034C>T
10 papers
NM_017449.5
p.D678N
c.2032G>A
NM_004442.7
p.D679N
c.2035G>A
1 paper
NM_017449.5
p.F677F
c.2031C>T
1 paper
NM_017449.5
p.E703K
c.2107G>A
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