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.E1804Q

c.5410G>C

Surrounding Variants

1 paper

NM_015136.3

p.E1804D

c.5412G>C

1 paper

NM_015136.3

p.E1804D

c.5412G>T

1 paper

NM_015136.3

p.N1802S

c.5405A>G

2 papers

NM_015136.3

p.R1796W

c.5386C>T

1 paper

NM_015136.3

p.D1786V

c.5357A>T

1 paper

NM_015136.3

p.H1784Q

c.5352T>A

1 paper

NM_015136.3

p.H1784Q

c.5352T>G

2 papers

NM_015136.3

p.R1778H

c.5333G>A

1 paper

NM_015136.3

p.R1778C

c.5332C>T

1 paper

NM_015136.3

p.A1773V

c.5318C>T

2 papers

NM_015136.3

p.R1817Q

c.5450G>A

1 paper

NM_015136.3

p.T1818A

c.5452A>G