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

4 papers

NM_015136.3

p.M912V

c.2734A>G

Surrounding Variants

1 paper

NM_015136.3

p.M912I

c.2736G>A

1 paper

NM_015136.3

p.M912I

c.2736G>C

1 paper

NM_015136.3

p.M912I

c.2736G>T

1 paper

NM_015136.3

p.C908*

c.2724T>A

1 paper

NM_015136.3

p.D919N

c.2755G>A

1 paper

NM_015136.3

p.R900C

c.2698C>T

1 paper

NM_015136.3

p.C879R

c.2635T>C

1 paper

NM_015136.3

p.R870H

c.2609G>A

1 paper

NM_015136.3

p.P868L

c.2603C>T

1 paper

NM_015136.3

p.C865*

c.2595C>A

1 paper

NM_015136.3

p.S858F

c.2573C>T

1 paper

NM_015136.3

p.D855G

c.2564A>G