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.C707R

c.2119T>C

Surrounding Variants

3 papers

NM_015136.3

p.K705M

c.2114A>T

1 paper

NM_015136.3

p.K705E

c.2113A>G

1 paper

NM_015136.3

p.G699R

c.2095G>A

1 paper

NM_015136.3

p.G699R

c.2095G>C

1 paper

NM_015136.3

p.G699_L703del0

c.2095_2109del15

1 paper

NM_015136.3

p.L684_D685Splc

c.2053-4C>T

1 paper

NM_015136.3

p.K722Q

c.2164A>C

1 paper

NM_015136.3

p.G723_G726del0

c.2169_2177del9

1 paper

NM_015136.3

p.F724I

c.2170T>A

1 paper

NM_015136.3

p.D728G

c.2183A>G

1 paper

NM_015136.3

p.V682M

c.2044G>A

1 paper

NM_015136.3

p.C677R

c.2029T>C