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.D816fs

c.2446_2447fs

Surrounding Variants

1 paper

NM_017564.10

p.D816_G817insFs

c.2448_2449ins23

1 paper

NM_017564.10

p.G817V

c.2450G>T

1 paper

NM_017564.10

p.S805G

c.2413A>G

1 paper

NM_017564.10

p.V795I

c.2383G>A

1 paper

NM_017564.10

p.Y845H

c.2533T>C

1 paper

NM_017564.10

p.C852R

c.2554T>C

1 paper

NM_017564.10

p.Y858F

c.2573A>T

1 paper

NM_017564.10

p.G862R

c.2584G>A

1 paper

NM_017564.10

p.G862R

c.2584G>C

1 paper

NM_017564.10

p.M868I

c.2604G>A

1 paper

NM_017564.10

p.M868I

c.2604G>C

1 paper

NM_017564.10

p.M868I

c.2604G>T