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.R1208H

c.3623G>A

Surrounding Variants

1 paper

NM_015136.3

p.T1201I

c.3602C>T

1 paper

NM_015136.3

p.Q1226_P1227Splc

c.3678+73C>T

2 papers

NM_015136.3

p.R1171C

c.3511C>T

1 paper

NM_015136.3

p.V1232ins2

c.3694_3695ins6

1 paper

NM_015136.3

p.V1232E

c.3695T>A

1 paper

NM_015136.3

p.M1238_P1242delFs

c.3712_3725del14

1 paper

NM_015136.3

p.Y1163C

c.3488A>G

1 paper

NM_015136.3

p.R1244C

c.3730C>T

1 paper

NM_015136.3

p.S1245*

c.3734C>A

1 paper

NM_015136.3

p.L1153F

c.3459G>C

1 paper

NM_015136.3

p.L1153F

c.3459G>T

1 paper

NM_015136.3

p.S1250L

c.3749C>T