Varaico: Literature-Extracted Genetic Variants

Gene:EPHB6
Variant:p.S177del1

EPHB6

508 papers

RefSeq Summary

This gene encodes a member of a family of transmembrane proteins that function as receptors for ephrin-B family proteins. Unlike other members of this family, the encoded protein does not contain a fu...

Pfam Domains

Ephrin_lbdaa 34–233UCSCEphrin receptor ligand binding domain
Ephrin_CRDaa 234–302UCSCEphrin cysteine rich domain
Ephrin_rec_likeaa 305–347UCSCTyrosine-protein kinase ephrin type A/B receptor-like
fn3aa 490–579UCSCFibronectin type III domain
EphA2_TMaa 597–668UCSCEphrin type-A receptor 2 transmembrane domain
PK_Tyr_Ser-Thraa 671–916UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

EPH receptor B6

HGNC Alias Symbol

HEP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_004445.6
p.S177del1
c.529_530delTCT
Surrounding Variants
2 papers
NM_004445.6
p.S176del1
c.526_527delTCC
1 paper
NM_004445.6
p.W180G
c.538T>G
2 papers
NM_004445.6
p.S172S
c.516C>T
1 paper
NM_004445.6
p.S170F
c.509C>T
1 paper
NM_004445.6
p.G183R
c.547G>A
2 papers
NM_004445.6
p.S170T
c.508T>A
1 paper
NM_004445.6
p.P184P
c.552C>A
1 paper
NM_004445.6
p.S168S
c.504C>T
1 paper
NM_004445.6
p.S168A
c.502T>G
1 paper
NM_004445.6
p.S166F
c.497C>T
1 paper
NM_004445.6
p.S166P
c.496T>C
1 paper
NM_004445.6
p.P165L
c.494C>T
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