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.Q1006insFs

c.3016_3017insC

Surrounding Variants

1 paper

NM_002208.5

p.E996fs

c.2986_2987fs

1 paper

NM_002208.5

p.E996delFs

c.2986delC

3 papers

NM_002208.5

p.V1019A

c.3056T>C

1 paper

NM_002208.5

p.V993I

c.2977G>A

1 paper

NM_002208.5

p.E988*

c.2962G>T

1 paper

NM_002208.5

p.P972L

c.2915C>T

1 paper

NM_002208.5

p.Q1028_A1029Splc

c.3084+719G>A

1 paper

NM_002208.5

p.Q1028_A1029Splc

c.3084+724C>G

1 paper

NM_002208.5

p.E955K

c.2863G>A

9 papers

NM_002208.5

p.R950W

c.2848C>T

1 paper

NM_002208.5

p.T942N

c.2825C>A

1 paper

NM_002208.5

p.S922*

c.2765C>G