Varaico: Literature-Extracted Genetic Variants

ITGA5

141 papers

RefSeq Summary

The product of this gene belongs to the integrin alpha chain family. Integrins are heterodimeric integral membrane proteins composed of an alpha subunit and a beta subunit that function in cell surfac...

Pfam Domains

FG-GAPaa 326–368UCSCFG-GAP repeat

FG-GAPaa 392–428UCSCFG-GAP repeat

Integrin_A_Ig_1aa 489–644UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 645–786UCSCIntegrin alpha Ig-like domain 2

Integrin_A_Ig_3aa 792–989UCSCIntegrin alpha Ig-like domain 3

Gene Aliases

HGNC Name

integrin subunit alpha 5

HGNC Previous Symbol

FNRA

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_002205.5

p.R218C

c.652C>T

Surrounding Variants

1 paper

NM_002205.5

p.R218H

c.653G>A

1 paper

NM_002205.5

p.W229*

c.686G>A

1 paper

NM_002205.5

p.W229*

c.687G>A

1 paper

NM_002205.5

p.G231Splc

c.691+1G>A

1 paper

NM_002205.5

p.E212K

c.634G>A

1 paper

NM_002205.5

p.D195Splc

c.583+91T>G

1 paper

NM_002205.5

p.N182fs

c.544_545fs

1 paper

NM_002205.5

p.S179_N182insFs

c.537_544dup8

1 paper

NM_002205.5

p.V173_T175del3

c.517_524del9

1 paper

NM_002205.5

p.T175N

c.524C>A

1 paper

NM_002205.5

p.T175A

c.523A>G

1 paper

NM_002205.5

p.G174R

c.520G>C