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

1–12 of 123 variants

9 papers

NM_002208.5

p.R950W

c.2848C>T

5 papers

NM_002208.5

p.R482Q

c.1445G>A

4 papers

NM_002208.5

p.Q892H

c.2676G>T

4 papers

NM_002208.5

p.Q892H

c.2676G>C

3 papers

NM_002208.5

p.K182E

c.544A>G

3 papers

NM_002208.5

p.T323M

c.968C>T

3 papers

NM_002208.5

p.I477V

c.1429A>G

3 papers

NM_002208.5

p.V1019A

c.3056T>C

2 papers

NM_002208.5

p.A351V

c.1052C>T

2 papers

NM_002208.5

p.A374V

c.1121C>T

2 papers

NM_002208.5

p.A396T

c.1186G>A

2 papers

NM_002208.5

p.R552C

c.1654C>T