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.A706T

c.2116G>A

Surrounding Variants

1 paper

NM_001004439.2

p.A695T

c.2083G>A

1 paper

NM_001004439.2

p.G725S

c.2173G>A

2 papers

NM_001004439.2

p.R731Q

c.2192G>A

1 paper

NM_001004439.2

p.T688I

c.2063C>T

1 paper

NM_001004439.2

p.Q685K

c.2053C>A

1 paper

NM_001004439.2

p.H683_F684delFs

c.2049_2050delAA

1 paper

NM_001004439.2

p.F679F

c.2037C>T

1 paper

NM_001004439.2

p.C674*

c.2022C>A

1 paper

NM_001004439.2

p.A671V

c.2012C>T

1 paper

NM_001004439.2

p.A671D

c.2012C>A

1 paper

NM_001004439.2

p.N653H

c.1957A>C

1 paper

NM_001004439.2

p.L645H

c.1934T>A