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.P1121_R1122insFs

c.3363_3364dupCC

Surrounding Variants

2 papers

NM_015136.3

p.R1122insFs

c.3364dupC

1 paper

NM_015136.3

p.P1120S

c.3358C>T

1 paper

NM_015136.3

p.L1119fs

c.3355_3356fs

1 paper

NM_015136.3

p.L1119V

c.3355C>G

1 paper

NM_015136.3

p.R1122fs

c.3364_3365fs

3 papers

NM_015136.3

p.R1122*

c.3364C>T

1 paper

NM_015136.3

p.R1122fs

c.3364_3365fs

1 paper

NM_015136.3

p.R1122P

c.3365G>C

1 paper

NM_015136.3

p.G1123G

c.3369G>A

1 paper

NM_015136.3

p.R1145W

c.3433C>T

2 papers

NM_015136.3

p.A1102V

c.3305C>T

1 paper

NM_015136.3

p.L1153F

c.3459G>C