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.C1950S

c.5848T>A

Surrounding Variants

1 paper

NM_015136.3

p.C1950S

c.5849G>C

2 papers

NM_015136.3

p.R1948C

c.5842C>T

1 paper

NM_015136.3

p.A1970Splc

c.5908+1G>C

1 paper

NM_015136.3

p.V1929I

c.5785G>A

1 paper

NM_015136.3

p.V1929L

c.5785G>C

1 paper

NM_015136.3

p.P1913S

c.5737C>T

1 paper

NM_015136.3

p.C1886R

c.5656T>C

1 paper

NM_015136.3

p.P1880L

c.5639C>T

5 papers

NM_015136.3

p.R1872H

c.5615G>A

1 paper

NM_015136.3

p.A1871_R1882Fs

c.5612_5646delinsGFs

1 paper

NM_015136.3

p.A1871fs

c.5611_5612fs

2 papers

NM_015136.3

p.P1978S

c.5932C>T