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.N1179Y

c.3535A>T

Surrounding Variants

1 paper

NM_017564.10

p.N1180del1

c.3538_3539delAAT

1 paper

NM_017564.10

p.A1181V

c.3542C>T

3 papers

NM_017564.10

p.Y1172H

c.3514T>C

1 paper

NM_017564.10

p.S1193Y

c.3578C>A

1 paper

NM_017564.10

p.A1163V

c.3488C>T

1 paper

NM_017564.10

p.R1143W

c.3427C>T

1 paper

NM_017564.10

p.G1118R

c.3352G>A

1 paper

NM_017564.10

p.G1118R

c.3352G>C

1 paper

NM_017564.10

p.N1113N

c.3339C>T

1 paper

NM_017564.10

p.E1195K

c.3583G>A

1 paper

NM_017564.10

p.D1213V

c.3638A>T

1 paper

NM_017564.10

p.M1218V

c.3652A>G