Varaico: Literature-Extracted Genetic Variants

COL11A2

381 papers

RefSeq Summary

This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type...

Pfam Domains

Laminin_G_2aa 90–211UCSCLaminin G domain

Collagenaa 310–364UCSCCollagen triple helix repeat (20 copies)

Collagenaa 399–460UCSCCollagen triple helix repeat (20 copies)

Collagenaa 829–900UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1007–1078UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1384–1457UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XI alpha 2 chain

HGNC Previous Symbols

DFNA13; DFNB53

Papers

RefSeq ID

Protein change

DNA change

1–12 of 658 variants

18 papers

NM_080680.3

p.P322insFs

c.966dupC

11 papers

NM_080680.3

p.T323fs

c.967_968fs

11 papers

NM_080680.3

p.P621T

c.1861C>A

10 papers

NM_080680.3

p.V89delFs

c.266delA

10 papers

NM_080680.3

p.G230W

c.688G>T

8 papers

NM_080680.3

p.R118P

c.353G>C

8 papers

NM_080680.3

p.R539W

c.1615C>T

7 papers

NM_080680.3

p.P779L

c.2336C>T

7 papers

NM_080680.3

p.D900D

c.2700T>C

7 papers

NM_080680.3

p.R1331*

c.3991C>T

7 papers

NM_080680.3

p.P1422L

c.4265C>T

6 papers

NM_080680.3

p.R177*

c.529C>T