Varaico: Literature-Extracted Genetic Variants

COL22A1

218 papers

RefSeq Summary

This gene encodes member of the collagen family which is thought to contribute to the stabilization of myotendinous junctions and strengthen skeletal muscle attachments during contractile activity. It...

Pfam Domains

VWAaa 38–212UCSCvon Willebrand factor type A domain

Collagenaa 744–814UCSCCollagen triple helix repeat (20 copies)

Collagenaa 795–856UCSCCollagen triple helix repeat (20 copies)

Collagenaa 861–924UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1043–1100UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1116–1174UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XXII alpha 1 chain

HGNC Previous Name

collagen, type XXII, alpha 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 435 variants

4 papers

NM_152888.3

p.A938D

c.2813C>A

4 papers

NM_152888.3

p.P1589T

c.4765C>A

3 papers

NM_152888.3

p.S320G

c.958A>G

3 papers

NM_152888.3

p.E736D

c.2208G>T

3 papers

NM_152888.3

p.E736D

c.2208G>C

3 papers

NM_152888.3

p.R1039H

c.3116G>A

2 papers

NM_152888.3

p.S34I

c.101G>T

2 papers

NM_152888.3

p.V49M

c.145G>A

2 papers

NM_152888.3

p.R107H

c.320G>A

2 papers

NM_152888.3

p.R122H

c.365G>A

2 papers

NM_152888.3

p.R171C

c.511C>T

2 papers

NM_152888.3

p.R215H

c.644G>A