Varaico: Literature-Extracted Genetic Variants

ITGAL

226 papers

RefSeq Summary

ITGAL encodes the integrin alpha L chain. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This I-domain containing alpha integrin combines with the ...

Pfam Domains

VWAaa 156–326UCSCvon Willebrand factor type A domain

FG-GAPaa 460–497UCSCFG-GAP repeat

FG-GAPaa 521–554UCSCFG-GAP repeat

Integrin_A_Ig_1aa 612–770UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 771–919UCSCIntegrin alpha Ig-like domain 2

Integrin_alphaaa 1113–1127UCSCIntegrin alpha cytoplasmic region

Gene Aliases

HGNC Name

integrin subunit alpha L

HGNC Previous Symbol

CD11A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002209.3

p.R281delFs

c.843delC

Surrounding Variants

1 paper

NM_002209.3

p.R281C

c.841C>T

1 paper

NM_002209.3

p.I284insFs

c.850_851ins4

1 paper

NM_002209.3

p.D278A

c.833A>C

1 paper

NM_002209.3

p.K277R

c.830A>G

1 paper

NM_002209.3

p.A275E

c.824C>A

1 paper

NM_002209.3

p.A275V

c.824C>T

1 paper

NM_002209.3

p.D274V

c.821A>T

1 paper

NM_002209.3

p.D274N

c.820G>A

1 paper

NM_002209.3

p.T263S

c.787A>T

1 paper

NM_002209.3

p.K257Q

c.769A>C

1 paper

NM_002209.3

p.D254A

c.761A>C

1 paper

NM_002209.3

p.D254G

c.761A>G