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.G81R

c.241G>A

Surrounding Variants

1 paper

NM_001004439.2

p.G81R

c.241G>C

1 paper

NM_001004439.2

p.H80H

c.240C>T

1 paper

NM_001004439.2

p.D72Y

c.214G>T

1 paper

NM_001004439.2

p.A60A

c.180C>T

1 paper

NM_001004439.2

p.V57F

c.169G>T

1 paper

NM_001004439.2

p.V96E

c.287T>A

1 paper

NM_001004439.2

p.S97F

c.290C>T

1 paper

NM_001004439.2

p.M103I

c.309G>T

1 paper

NM_001004439.2

p.M103I

c.309G>C

1 paper

NM_001004439.2

p.M103I

c.309G>A

1 paper

NM_001004439.2

p.R104S

c.310C>A

1 paper

NM_001004439.2

p.R104R

c.312C>T