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

1–12 of 107 variants

5 papers

NM_001004439.2

p.V433M

c.1297G>A

4 papers

NM_001004439.2

p.V517I

c.1549G>A

3 papers

NM_001004439.2

p.V944M

c.2830G>A

3 papers

NM_001004439.2

p.P972L

c.2915C>T

2 papers

NM_001004439.2

p.R472Q

c.1415G>A

2 papers

NM_001004439.2

p.L524R

c.1571T>G

2 papers

NM_001004439.2

p.R731Q

c.2192G>A

2 papers

NM_001004439.2

p.T821M

c.2462C>T

2 papers

NM_001004439.2

p.S1148I

c.3443G>T

1 paper

NM_001004439.2

p.R31W

c.91C>T

1 paper

NM_001004439.2

p.V57F

c.169G>T

1 paper

NM_001004439.2

p.A60A

c.180C>T