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.E2516*

c.7546G>T

Surrounding Variants

2 papers

NM_015136.3

p.D2520D

c.7560T>C

1 paper

NM_015136.3

p.D2522del1

c.7564_7565delGAC

1 paper

NM_015136.3

p.P2525L

c.7574C>T

1 paper

NM_015136.3

p.Q2527*

c.7579C>T

1 paper

NM_015136.3

p.E2528*

c.7582G>T

2 papers

NM_015136.3

p.V2535G

c.7604T>G

1 paper

NM_015136.3

p.V2541_F2542insFs

c.7621_7624dup4

1 paper

NM_015136.3

p.F2542fs

c.7624_7625fs

1 paper

NM_015136.3

p.G2543S

c.7627G>A

1 paper

NM_015136.3

p.F2508S

c.7523T>C

1 paper

NM_015136.3

p.M2506K

c.7517T>A

8 papers

NM_015136.3

p.M2506T

c.7517T>C