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.G969delFs

c.2906delG

Surrounding Variants

1 paper

NM_015136.3

p.R972W

c.2914C>T

1 paper

NM_015136.3

p.R972Q

c.2915G>A

1 paper

NM_015136.3

p.P977H

c.2930C>A

1 paper

NM_015136.3

p.E994D

c.2982G>C

1 paper

NM_015136.3

p.E994D

c.2982G>T

1 paper

NM_015136.3

p.N998D

c.2992A>G

1 paper

NM_015136.3

p.S1002F

c.3005C>T

1 paper

NM_015136.3

p.L1008V

c.3022C>G

1 paper

NM_015136.3

p.G1012S

c.3034G>A

1 paper

NM_015136.3

p.P1016S

c.3046C>T

1 paper

NM_015136.3

p.D1018N

c.3052G>A

2 papers

NM_015136.3

p.R1019H

c.3056G>A