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.L524L

c.1570C>T

Surrounding Variants

2 papers

NM_001004439.2

p.L524R

c.1571T>G

1 paper

NM_001004439.2

p.Q522_N523Splc

c.1567-4G>T

1 paper

NM_001004439.2

p.T530T

c.1590G>A

1 paper

NM_001004439.2

p.G543V

c.1628G>T

1 paper

NM_001004439.2

p.A547V

c.1640C>T

4 papers

NM_001004439.2

p.V517I

c.1549G>A

1 paper

NM_001004439.2

p.E511A

c.1532A>C

1 paper

NM_001004439.2

p.A502T

c.1504G>A

1 paper

NM_001004439.2

p.V494M

c.1480G>A

1 paper

NM_001004439.2

p.D492D

c.1476C>T

1 paper

NM_001004439.2

p.A630P

c.1888G>C

2 papers

NM_001004439.2

p.R472Q

c.1415G>A