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.V2059E

c.6176T>A

Surrounding Variants

1 paper

NM_015136.3

p.P2062L

c.6185C>T

1 paper

NM_015136.3

p.R2071C

c.6211C>T

1 paper

NM_015136.3

p.R2071H

c.6212G>A

1 paper

NM_015136.3

p.C2089Y

c.6266G>A

2 papers

NM_015136.3

p.R2049C

c.6145C>T

1 paper

NM_015136.3

p.G2047V

c.6140G>T

1 paper

NM_015136.3

p.C2095_S2109del15

c.6283_6326del45

1 paper

NM_015136.3

p.C2095_S2109del0

c.6284_6325del42

1 paper

NM_015136.3

p.S2038C

c.6113C>G

1 paper

NM_015136.3

p.R2022H

c.6065G>A

1 paper

NM_015136.3

p.T2116A

c.6346A>G

1 paper

NM_015136.3

p.R2022C

c.6064C>T