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.A1871fs

c.5611_5612fs

Surrounding Variants

1 paper

NM_015136.3

p.A1871_R1882Fs

c.5612_5646delinsGFs

5 papers

NM_015136.3

p.R1872H

c.5615G>A

1 paper

NM_015136.3

p.P1880L

c.5639C>T

1 paper

NM_015136.3

p.Q1847*

c.5539C>T

2 papers

NM_015136.3

p.R1844L

c.5531G>T

1 paper

NM_015136.3

p.R1844C

c.5530C>T

1 paper

NM_015136.3

p.C1886R

c.5656T>C

4 papers

NM_015136.3

p.A1833P

c.5497G>C

1 paper

NM_015136.3

p.R1832Q

c.5495G>A

2 papers

NM_015136.3

p.R1832W

c.5494C>T

1 paper

NM_015136.3

p.R1830Q

c.5489G>A

1 paper

NM_015136.3

p.S1827F

c.5480C>T