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.V166I

c.496G>A

Surrounding Variants

1 paper

NM_001004439.2

p.D164E

c.492C>G

1 paper

NM_001004439.2

p.D164E

c.492C>A

1 paper

NM_001004439.2

p.M163I

c.489G>T

1 paper

NM_001004439.2

p.M163I

c.489G>C

1 paper

NM_001004439.2

p.M163I

c.489G>A

1 paper

NM_001004439.2

p.M163L

c.487A>T

1 paper

NM_001004439.2

p.M163L

c.487A>C

1 paper

NM_001004439.2

p.E208K

c.622G>A

1 paper

NM_001004439.2

p.G236E

c.707G>A

1 paper

NM_001004439.2

p.T242M

c.725C>T

1 paper

NM_001004439.2

p.A249V

c.746C>T

1 paper

NM_001004439.2

p.R250C

c.748C>T