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

1 paper

NM_002208.5

p.L562S

c.1685T>C

Surrounding Variants

1 paper

NM_002208.5

p.G558S

c.1672G>A

2 papers

NM_002208.5

p.G571R

c.1711G>C

2 papers

NM_002208.5

p.G571R

c.1711G>A

1 paper

NM_002208.5

p.A583delFs

c.1747delC

1 paper

NM_002208.5

p.A583fs

c.1747_1748fs

1 paper

NM_002208.5

p.D586Y

c.1756G>T

1 paper

NM_002208.5

p.T593P

c.1777A>C

2 papers

NM_002208.5

p.V595M

c.1783G>A

1 paper

NM_002208.5

p.A606T

c.1816G>A

1 paper

NM_002208.5

p.D608Y

c.1822G>T

1 paper

NM_002208.5

p.S611T

c.1832G>C

1 paper

NM_002208.5

p.Y616C

c.1847A>G