Varaico: Literature-Extracted Genetic Variants

ITGAE

131 papers

RefSeq Summary

Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This gene encodes an I-domain-containing alpha integrin that undergoes post-translational cleavage i...

Pfam Domains

VWAaa 202–381UCSCvon Willebrand factor type A domain

FG-GAPaa 514–551UCSCFG-GAP repeat

Integrin_A_Ig_2aa 823–962UCSCIntegrin alpha Ig-like domain 2

Integrin_alphaaa 1148–1162UCSCIntegrin alpha cytoplasmic region

Gene Aliases

HGNC Name

integrin subunit alpha E

HGNC Alias Symbols

CD103; HUMINAE

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002208.5

p.A351V

c.1052C>T

Surrounding Variants

1 paper

NM_002208.5

p.E363G

c.1088A>G

1 paper

NM_002208.5

p.H365H

c.1095T>C

2 papers

NM_002208.5

p.A374V

c.1121C>T

1 paper

NM_002208.5

p.S380G

c.1138A>G

3 papers

NM_002208.5

p.T323M

c.968C>T

1 paper

NM_002208.5

p.M307I

c.921G>T

1 paper

NM_002208.5

p.M307I

c.921G>C

1 paper

NM_002208.5

p.M307I

c.921G>A

1 paper

NM_002208.5

p.G298S

c.892G>A

1 paper

NM_002208.5

p.G394V

c.1181G>T

2 papers

NM_002208.5

p.A396T

c.1186G>A

1 paper

NM_002208.5

p.Y399*

c.1197C>G