Varaico: Literature-Extracted Genetic Variants

ITGA7

144 papers

RefSeq Summary

The protein encoded by this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. They mediate a wide spe...

Pfam Domains

FG-GAPaa 320–358UCSCFG-GAP repeat

FG-GAPaa 381–414UCSCFG-GAP repeat

Integrin_A_Ig_1aa 471–629UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 631–795UCSCIntegrin alpha Ig-like domain 2

Integrin_A_Ig_3aa 801–1021UCSCIntegrin alpha Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha 7

HGNC Previous Name

integrin, alpha 7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_002206.3

p.R65*

c.193C>T

Surrounding Variants

1 paper

NM_002206.3

p.P48L

c.143C>T

1 paper

NM_002206.3

p.P48R

c.143C>G

1 paper

NM_002206.3

p.E45G

c.134A>G

1 paper

NM_002206.3

p.K44fs

c.130_131fs

1 paper

NM_002206.3

p.K44_E45insFs

c.132_133insA

2 papers

NM_002206.3

p.L36V

c.106C>G

1 paper

NM_002206.3

p.L27_A33insFs

c.80_99dup20

1 paper

NM_002206.3

p.A33fs

c.97_98fs

1 paper

NM_002206.3

p.V32insFs

c.94_95dupGT

1 paper

NM_002206.3

p.L26L

c.78G>A

1 paper

NM_002206.3

p.Y17C

c.50A>G

1 paper

NM_002206.3

p.C16Y

c.47G>A