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.H962N

c.2884C>A

Surrounding Variants

1 paper

NM_002209.3

p.P978L

c.2933C>T

1 paper

NM_002209.3

p.I984fs

c.2950_2951fs

1 paper

NM_002209.3

p.I984fs

c.2950_2951fs

1 paper

NM_002209.3

p.P1007insFs

c.3020_3021insC

1 paper

NM_002209.3

p.G1016_A1017del2

c.3046_3050del6

1 paper

NM_002209.3

p.G1016_A1017del1

c.3048_3050delAGC

1 paper

NM_002209.3

p.V1023A

c.3068T>C

1 paper

NM_002209.3

p.G1035W

c.3103G>T

1 paper

NM_002209.3

p.E1044_A1045Splc

c.3132+5T>C

1 paper

NM_002209.3

p.K1063R

c.3188A>G

1 paper

NM_002209.3

p.K1063N

c.3189G>C

1 paper

NM_002209.3

p.K1063N

c.3189G>T