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.D2122N

c.6364G>A

Surrounding Variants

1 paper

NM_015136.3

p.T2116A

c.6346A>G

3 papers

NM_015136.3

p.S2129R

c.6385A>C

3 papers

NM_015136.3

p.S2129R

c.6387C>A

3 papers

NM_015136.3

p.S2129R

c.6387C>G

1 paper

NM_015136.3

p.R2131W

c.6391C>T

1 paper

NM_015136.3

p.R2133H

c.6398G>A

1 paper

NM_015136.3

p.N2134S

c.6401A>G

2 papers

NM_015136.3

p.P2135A

c.6403C>G

1 paper

NM_015136.3

p.R2141C

c.6421C>T

1 paper

NM_015136.3

p.S2145R

c.6433A>C

1 paper

NM_015136.3

p.S2145R

c.6435C>A

1 paper

NM_015136.3

p.S2145R

c.6435C>G