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.R552C

c.1654C>T

Surrounding Variants

1 paper

NM_002208.5

p.H542R

c.1625A>G

1 paper

NM_002208.5

p.A536T

c.1606G>A

1 paper

NM_002208.5

p.G507E

c.1520G>A

1 paper

NM_002208.5

p.L492L

c.1476C>T

5 papers

NM_002208.5

p.R482Q

c.1445G>A

3 papers

NM_002208.5

p.I477V

c.1429A>G

1 paper

NM_002208.5

p.G558S

c.1672G>A

1 paper

NM_002208.5

p.L562S

c.1685T>C

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