Varaico: Literature-Extracted Genetic Variants

STAB2

204 papers

RefSeq Summary

This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal g...

Pfam Domains

EGF_STAB1-2aa 150–196UCSCStabilin-1/2, EGF-like domain

EGF_3aa 242–275UCSCEGF domain

EGF_3aa 326–361UCSCEGF domain

Fasciclinaa 382–507UCSCFasciclin domain

Fasciclinaa 526–654UCSCFasciclin domain

EGF_STAB1-2aa 778–827UCSCStabilin-1/2, EGF-like domain

Gene Aliases

HGNC Name

stabilin 2

HGNC Alias Symbols

DKFZP434E0321; FELL; STAB-2; HARE; FEEL-2; SCARH1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017564.10

p.R787Q

c.2360G>A

Surrounding Variants

1 paper

NM_017564.10

p.N789D

c.2365A>G

3 papers

NM_017564.10

p.G785E

c.2354G>A

1 paper

NM_017564.10

p.Y784Y

c.2352C>T

2 papers

NM_017564.10

p.G772S

c.2314G>A

1 paper

NM_017564.10

p.Q753_C754Splc

c.2259+11A>G

1 paper

NM_017564.10

p.Q739L

c.2216A>T

1 paper

NM_017564.10

p.D736H

c.2206G>C

1 paper

NM_017564.10

p.R717Q

c.2150G>A

1 paper

NM_017564.10

p.R707insFs

c.2119_2120insG

1 paper

NM_017564.10

p.R707fs

c.2119_2120fs

1 paper

NM_017564.10

p.V795I

c.2383G>A

1 paper

NM_017564.10

p.S805G

c.2413A>G