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.E198K

c.592G>A

Surrounding Variants

1 paper

NM_017564.10

p.L203P

c.608T>C

1 paper

NM_017564.10

p.S211S

c.633G>A

1 paper

NM_017564.10

p.R243*

c.727C>T

1 paper

NM_017564.10

p.Y254C

c.761A>G

1 paper

NM_017564.10

p.R259W

c.775C>T

1 paper

NM_017564.10

p.T263I

c.788C>T

1 paper

NM_017564.10

p.V274A

c.821T>C

1 paper

NM_017564.10

p.C307Y

c.920G>A

1 paper

NM_017564.10

p.E309*

c.925G>T

1 paper

NM_017564.10

p.Q312H

c.936G>C

1 paper

NM_017564.10

p.Q312H

c.936G>T

1 paper

NM_017564.10

p.C326R

c.976T>C