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.W1083*

c.3248G>A

Surrounding Variants

1 paper

NM_015136.3

p.W1083*

c.3249G>A

1 paper

NM_015136.3

p.E1084G

c.3251A>G

1 paper

NM_015136.3

p.R1082H

c.3245G>A

1 paper

NM_015136.3

p.R1082C

c.3244C>T

1 paper

NM_015136.3

p.I1085V

c.3253A>G

7 papers

NM_015136.3

p.S1089G

c.3265A>G

1 paper

NM_015136.3

p.G1071W

c.3211G>T

1 paper

NM_015136.3

p.R1068Q

c.3203G>A

1 paper

NM_015136.3

p.R1068W

c.3202C>T

1 paper

NM_015136.3

p.P1049L

c.3146C>T

1 paper

NM_015136.3

p.F1041Y

c.3122T>A

1 paper

NM_015136.3

p.Q1033K

c.3097C>A