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.K1134N

c.3402G>C

Surrounding Variants

1 paper

NM_001004439.2

p.K1134N

c.3402G>T

2 papers

NM_001004439.2

p.S1148I

c.3443G>T

1 paper

NM_001004439.2

p.G1152delFs

c.3455delC

1 paper

NM_001004439.2

p.L1153delFs

c.3458delA

1 paper

NM_001004439.2

p.V1160V

c.3480C>T

1 paper

NM_001004439.2

p.A1095_L1096Splc

c.3286-51C>T

1 paper

NM_001004439.2

p.E1049E

c.3147G>A

1 paper

NM_001004439.2

p.E1042*

c.3124G>T

1 paper

NM_001004439.2

p.W1037*

c.3111G>A

1 paper

NM_001004439.2

p.W1037*

c.3110G>A

1 paper

NM_001004439.2

p.A1030A

c.3090G>A

3 papers

NM_001004439.2

p.P972L

c.2915C>T