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.Q2350*

c.7048C>T

Surrounding Variants

1 paper

NM_015136.3

p.T2349N

c.7046C>A

1 paper

NM_015136.3

p.R2351W

c.7051C>T

1 paper

NM_015136.3

p.D2361del1

c.7081_7082delGAT

1 paper

NM_015136.3

p.G2340_M2341Splc

c.7021-7G>A

1 paper

NM_015136.3

p.P2371T

c.7111C>A

1 paper

NM_015136.3

p.M2380T

c.7139T>C

1 paper

NM_015136.3

p.Y2339C

c.7016A>G

1 paper

NM_015136.3

p.V2328M

c.6982G>A

1 paper

NM_015136.3

p.T2320M

c.6959C>T

1 paper

NM_015136.3

p.T2381M

c.7142C>T

1 paper

NM_015136.3

p.G2317R

c.6949G>A

1 paper

NM_015136.3

p.G2317R

c.6949G>C