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

3 papers

NM_002208.5

p.K182E

c.544A>G

Surrounding Variants

1 paper

NM_002208.5

p.R178G

c.532C>G

1 paper

NM_002208.5

p.R177G

c.529C>G

1 paper

NM_002208.5

p.K188_D193ins2

c.562_579dup18

1 paper

NM_002208.5

p.G166S

c.496G>A

1 paper

NM_002208.5

p.L147P

c.440T>C

1 paper

NM_002208.5

p.A137A

c.411T>C

1 paper

NM_002208.5

p.E202K

c.604G>A

1 paper

NM_002208.5

p.I203I

c.609T>C

1 paper

NM_002208.5

p.P215H

c.644C>A

1 paper

NM_002208.5

p.L105*

c.314T>A

1 paper

NM_002208.5

p.R230S

c.690G>T

1 paper

NM_002208.5

p.I87I

c.261C>T