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

1 paper

NM_002209.3

p.E768A

c.2303A>C

Surrounding Variants

1 paper

NM_002209.3

p.E768Q

c.2302G>C

1 paper

NM_002209.3

p.P752A

c.2254C>G

1 paper

NM_002209.3

p.P751L

c.2252C>T

1 paper

NM_002209.3

p.Q746*

c.2236C>T

1 paper

NM_002209.3

p.P740Q

c.2219C>A

1 paper

NM_002209.3

p.E736Q

c.2206G>C

1 paper

NM_002209.3

p.S728F

c.2183C>T

4 papers

NM_002209.3

p.R791T

c.2372G>C

1 paper

NM_002209.3

p.S806delFs

c.2416delA

1 paper

NM_002209.3

p.E812K

c.2434G>A

1 paper

NM_002209.3

p.P825L

c.2474C>T

1 paper

NM_002209.3

p.P842S

c.2524C>T