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.R1292R

c.3876G>A

Surrounding Variants

1 paper

NM_015136.3

p.D1289N

c.3865G>A

1 paper

NM_015136.3

p.R1298P

c.3893G>C

1 paper

NM_015136.3

p.S1302del1

c.3904_3905delTCC

2 papers

NM_015136.3

p.R1305W

c.3913C>T

1 paper

NM_015136.3

p.R1305Q

c.3914G>A

1 paper

NM_015136.3

p.G1284D

c.3851G>A

1 paper

NM_015136.3

p.R1280S

c.3838C>A

1 paper

NM_015136.3

p.R1269_E1270Splc

c.3807+8G>A

1 paper

NM_015136.3

p.S1263R

c.3789C>A

1 paper

NM_015136.3

p.R1259H

c.3776G>A

1 paper

NM_015136.3

p.S1250L

c.3749C>T

1 paper

NM_015136.3

p.L1336delFs

c.4008delA