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.D1083E

c.3249T>A

Surrounding Variants

1 paper

NM_002208.5

p.K1111_I1112Splc

c.3334-1007C>G

1 paper

NM_002208.5

p.Q1047H

c.3141G>T

1 paper

NM_002208.5

p.Q1047H

c.3141G>C

1 paper

NM_002208.5

p.V1133I

c.3397G>A

1 paper

NM_002208.5

p.F1152fs

c.3454_3455fs

1 paper

NM_002208.5

p.F1152delFs

c.3456delA

1 paper

NM_002208.5

p.E1172D

c.3516G>T

1 paper

NM_002208.5

p.Q1028_A1029Splc

c.3084+724C>G

1 paper

NM_002208.5

p.Q1028_A1029Splc

c.3084+719G>A

3 papers

NM_002208.5

p.V1019A

c.3056T>C

1 paper

NM_002208.5

p.Q1006insFs

c.3016_3017insC

1 paper

NM_002208.5

p.E996fs

c.2986_2987fs