Varaico: Literature-Extracted Genetic Variants

ITGAV

275 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 252–286UCSCFG-GAP repeat

FG-GAPaa 306–348UCSCFG-GAP repeat

FG-GAPaa 370–406UCSCFG-GAP repeat

Gene Aliases

HGNC Name

integrin subunit alpha V

HGNC Previous Symbols

VNRA; MSK8; VTNR

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002210.5

p.R539_R540ins5

c.1615_1619ins15

Surrounding Variants

3 papers

NM_002210.5

p.R539*

c.1615C>T

1 paper

NM_002210.5

p.R539Q

c.1616G>A

1 paper

NM_002210.5

p.R540L

c.1619G>T

1 paper

NM_002210.5

p.L542delFs

c.1624_1625delCT

1 paper

NM_002210.5

p.L542fs

c.1624_1625fs

2 papers

NM_002210.5

p.Q534R

c.1601A>G

1 paper

NM_002210.5

p.L527R

c.1580T>G

1 paper

NM_002210.5

p.E526K

c.1576G>A

1 paper

NM_002210.5

p.S552F

c.1655C>T

1 paper

NM_002210.5

p.V525M

c.1573G>A

1 paper

NM_002210.5

p.K553R

c.1658A>G

1 paper

NM_002210.5

p.Q524*

c.1570C>T