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.R33S

c.99G>T

Surrounding Variants

1 paper

NM_017564.10

p.R33S

c.99G>C

1 paper

NM_017564.10

p.K34_S35delFs

c.100_103del4

1 paper

NM_017564.10

p.K34*

c.100A>T

1 paper

NM_017564.10

p.S35insFs

c.105dupT

1 paper

NM_017564.10

p.R44G

c.130C>G

1 paper

NM_017564.10

p.P55S

c.163C>T

2 papers

NM_017564.10

p.P55L

c.164C>T

1 paper

NM_017564.10

p.L11V

c.31C>G

1 paper

NM_017564.10

p.M1delFs

c.2delT

1 paper

NM_017564.10

p.S81C

c.242C>G

1 paper

NM_017564.10

p.G86E

c.257G>A

1 paper

NM_017564.10

p.D94A

c.281A>C