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

3 papers

NM_015136.3

p.E117*

c.349G>T

Surrounding Variants

1 paper

NM_015136.3

p.A116T

c.346G>A

1 paper

NM_015136.3

p.G114R

c.340G>A

1 paper

NM_015136.3

p.G114R

c.340G>C

1 paper

NM_015136.3

p.C120S

c.358T>A

1 paper

NM_015136.3

p.C120S

c.359G>C

1 paper

NM_015136.3

p.G124E

c.371G>A

1 paper

NM_015136.3

p.G124G

c.372G>C

1 paper

NM_015136.3

p.C126*

c.378C>A

1 paper

NM_015136.3

p.L127S

c.380T>C

1 paper

NM_015136.3

p.G129S

c.385G>A

1 paper

NM_015136.3

p.M130L

c.388A>T

1 paper

NM_015136.3

p.M130K

c.389T>A