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.T1381A

c.4141A>G

Surrounding Variants

1 paper

NM_017564.10

p.G1380S

c.4138G>A

1 paper

NM_017564.10

p.C1383*

c.4149C>A

1 paper

NM_017564.10

p.C1374Y

c.4121G>A

1 paper

NM_017564.10

p.G1358D

c.4073G>A

1 paper

NM_017564.10

p.G1342A

c.4025G>C

1 paper

NM_017564.10

p.T1330N

c.3989C>A

1 paper

NM_017564.10

p.C1323C

c.3969C>T

1 paper

NM_017564.10

p.R1317*

c.3949C>T

1 paper

NM_017564.10

p.C1401F

c.4202G>T

1 paper

NM_017564.10

p.R1423*

c.4267C>T

1 paper

NM_017564.10

p.G1296R

c.3886G>A

1 paper

NM_017564.10

p.G1296R

c.3886G>C