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

7 papers

NM_015136.3

p.I2282V

c.6844A>G

Surrounding Variants

1 paper

NM_015136.3

p.R2288C

c.6862C>T

2 papers

NM_015136.3

p.R2288H

c.6863G>A

1 paper

NM_015136.3

p.R2288L

c.6863G>T

1 paper

NM_015136.3

p.A2273A

c.6819G>A

1 paper

NM_015136.3

p.A2273V

c.6818C>T

1 paper

NM_015136.3

p.R2294C

c.6880C>T

1 paper

NM_015136.3

p.T2264I

c.6791C>T

1 paper

NM_015136.3

p.R2301C

c.6901C>T

1 paper

NM_015136.3

p.L2259P

c.6776T>C

1 paper

NM_015136.3

p.F2251L

c.6753C>A

1 paper

NM_015136.3

p.F2251L

c.6753C>G

1 paper

NM_015136.3

p.F2251L

c.6751T>C