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.T805M

c.2414C>T

Surrounding Variants

1 paper

NM_015136.3

p.G798W

c.2392G>T

1 paper

NM_015136.3

p.F814S

c.2441T>C

1 paper

NM_015136.3

p.D792N

c.2374G>A

3 papers

NM_015136.3

p.L790I

c.2368C>A

1 paper

NM_015136.3

p.C784C

c.2352C>T

1 paper

NM_015136.3

p.Q829Q

c.2487G>A

1 paper

NM_015136.3

p.C846Y

c.2537G>A

1 paper

NM_015136.3

p.G854S

c.2560G>A

1 paper

NM_015136.3

p.D855G

c.2564A>G

1 paper

NM_015136.3

p.S858F

c.2573C>T

1 paper

NM_015136.3

p.C865*

c.2595C>A

1 paper

NM_015136.3

p.P868L

c.2603C>T