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.H1259R

c.3776A>G

Surrounding Variants

1 paper

NM_017564.10

p.K1263E

c.3787A>G

1 paper

NM_017564.10

p.A1252S

c.3754G>T

1 paper

NM_017564.10

p.N1242S

c.3725A>G

1 paper

NM_017564.10

p.Y1240D

c.3718T>G

1 paper

NM_017564.10

p.G1282E

c.3845G>A

1 paper

NM_017564.10

p.C1287S

c.3859T>A

1 paper

NM_017564.10

p.C1287S

c.3860G>C

1 paper

NM_017564.10

p.S1288A

c.3862T>G

1 paper

NM_017564.10

p.C1293G

c.3877T>G

1 paper

NM_017564.10

p.G1296R

c.3886G>A

1 paper

NM_017564.10

p.G1296R

c.3886G>C

1 paper

NM_017564.10

p.R1317*

c.3949C>T