Varaico: Literature-Extracted Genetic Variants

Gene:EPHB2
Variant:p.N336del1

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.N336del1
c.1006_1007delAAT
Surrounding Variants
1 paper
NM_017449.5
p.E337K
c.1009G>A
2 papers
NM_017449.5
p.T338insFs
c.1012_1013insT
1 paper
NM_017449.5
p.S333F
c.998C>T
1 paper
NM_017449.5
p.T338I
c.1013C>T
1 paper
NM_017449.5
p.S339A
c.1015T>G
2 papers
NM_017449.5
p.S339fs
c.1015_1016fs
1 paper
NM_017449.5
p.S339_L340delFs
c.1017_1018delCC
1 paper
NM_017449.5
p.S339F
c.1016C>T
4 papers
NM_017449.5
p.V331M
c.991G>A
2 papers
NM_017449.5
p.M341insFs
c.1022_1023insT
1 paper
NM_017449.5
p.M341T
c.1022T>C
1 paper
NM_017449.5
p.A330delFs
c.988delG
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