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.P1049L

c.3146C>T

Surrounding Variants

1 paper

NM_015136.3

p.F1041Y

c.3122T>A

1 paper

NM_015136.3

p.Q1033K

c.3097C>A

2 papers

NM_015136.3

p.R1032C

c.3094C>T

1 paper

NM_015136.3

p.T1022fs

c.3064_3065fs

2 papers

NM_015136.3

p.R1019H

c.3056G>A

1 paper

NM_015136.3

p.D1018N

c.3052G>A

1 paper

NM_015136.3

p.P1016S

c.3046C>T

1 paper

NM_015136.3

p.G1012S

c.3034G>A

1 paper

NM_015136.3

p.R1068W

c.3202C>T

1 paper

NM_015136.3

p.R1068Q

c.3203G>A

1 paper

NM_015136.3

p.G1071W

c.3211G>T

1 paper

NM_015136.3

p.R1082C

c.3244C>T