Varaico: Literature-Extracted Genetic Variants

ITGA11

98 papers

RefSeq Summary

This gene encodes an alpha integrin. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. This protein contains an I domain, is expressed in muscle tissu...

Pfam Domains

VWAaa 164–344UCSCvon Willebrand factor type A domain

FG-GAPaa 480–518UCSCFG-GAP repeat

FG-GAPaa 542–577UCSCFG-GAP repeat

Integrin_A_Ig_1aa 635–771UCSCIntegrin alpha Ig-like domain 1

Integrin_A_Ig_2aa 781–950UCSCIntegrin alpha Ig-like domain 2

Gene Aliases

HGNC Name

integrin subunit alpha 11

HGNC Alias Symbol

HsT18964

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001004439.2

p.Q891K

c.2671C>A

Surrounding Variants

1 paper

NM_001004439.2

p.V895I

c.2683G>A

1 paper

NM_001004439.2

p.R901Q

c.2702G>A

1 paper

NM_001004439.2

p.R909C

c.2725C>T

1 paper

NM_001004439.2

p.D911H

c.2731G>C

1 paper

NM_001004439.2

p.A928T

c.2782G>A

1 paper

NM_001004439.2

p.G930A

c.2789G>C

1 paper

NM_001004439.2

p.T854T

c.2562G>A

1 paper

NM_001004439.2

p.R835C

c.2503C>T

2 papers

NM_001004439.2

p.T821M

c.2462C>T

1 paper

NM_001004439.2

p.V809fs

c.2425_2426fs

1 paper

NM_001004439.2

p.V809insFs

c.2425_2426ins10

1 paper

NM_001004439.2

p.E941V

c.2822A>T