Varaico: Literature-Extracted Genetic Variants

STAB1

206 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, 16 epidermal g...

Pfam Domains

EGF_STAB1-2aa 150–196UCSCStabilin-1/2, EGF-like domain

Fasciclinaa 375–493UCSCFasciclin domain

Fasciclinaa 517–643UCSCFasciclin domain

EGF_STAB1-2aa 770–819UCSCStabilin-1/2, EGF-like domain

EGF_3aa 828–859UCSCEGF domain

EGF_3aa 908–945UCSCEGF domain

Gene Aliases

HGNC Name

stabilin 1

HGNC Alias Symbols

KIAA0246; STAB-1; FEEL-1; CLEVER-1; FELE-1; FEX1; SCARH2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015136.3

p.G1381R

c.4141G>C

Surrounding Variants

1 paper

NM_015136.3

p.G1381R

c.4141G>A

1 paper

NM_015136.3

p.V1382M

c.4144G>A

1 paper

NM_015136.3

p.N1378K

c.4134C>A

1 paper

NM_015136.3

p.N1378K

c.4134C>G

1 paper

NM_015136.3

p.G1376R

c.4126G>A

1 paper

NM_015136.3

p.G1376R

c.4126G>C

1 paper

NM_015136.3

p.C1367S

c.4100G>C

1 paper

NM_015136.3

p.C1367S

c.4099T>A

2 papers

NM_015136.3

p.T1365M

c.4094C>T

3 papers

NM_015136.3

p.E1355K

c.4063G>A

1 paper

NM_015136.3

p.G1352V

c.4055G>T

1 paper

NM_015136.3

p.V1339fs

c.4015_4016fs