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.R2439P

c.7316G>C

Surrounding Variants

1 paper

NM_015136.3

p.R2439H

c.7316G>A

1 paper

NM_015136.3

p.W2443*

c.7328G>A

1 paper

NM_015136.3

p.W2443*

c.7329G>A

1 paper

NM_015136.3

p.P2462L

c.7385C>T

1 paper

NM_015136.3

p.D2423E

c.7269C>A

1 paper

NM_015136.3

p.D2423E

c.7269C>G

1 paper

NM_015136.3

p.P2422S

c.7264C>T

1 paper

NM_015136.3

p.A2401V

c.7202C>T

2 papers

NM_015136.3

p.A2401T

c.7201G>A

1 paper

NM_015136.3

p.T2395I

c.7184C>T

1 paper

NM_015136.3

p.A2394T

c.7180G>A

4 papers

NM_015136.3

p.A2477V

c.7430C>T