Varaico: Literature-Extracted Genetic Variants

COL23A1

62 papers

RefSeq Summary

COL23A1 is a member of the transmembrane collagens, a subfamily of the nonfibrillar collagens that contain a single pass hydrophobic transmembrane domain (Banyard et al., 2003 [PubMed 12644459]).[supp...

Pfam Domains

Collagenaa 117–170UCSCCollagen triple helix repeat (20 copies)

Collagenaa 148–224UCSCCollagen triple helix repeat (20 copies)

Collagenaa 195–258UCSCCollagen triple helix repeat (20 copies)

Collagenaa 250–307UCSCCollagen triple helix repeat (20 copies)

Collagenaa 317–373UCSCCollagen triple helix repeat (20 copies)

Collagenaa 339–400UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XXIII alpha 1 chain

HGNC Alias Symbol

DKFZp434K0621

Papers

RefSeq ID

Protein change

DNA change

1–12 of 69 variants

3 papers

NM_173465.4

p.G102R

c.304G>C

3 papers

NM_173465.4

p.G102R

c.304G>A

2 papers

NM_173465.4

p.D176Y

c.526G>T

2 papers

NM_173465.4

p.R267W

c.799C>T

2 papers

NM_173465.4

p.T287A

c.859A>G

2 papers

NM_173465.4

p.R492Q

c.1475G>A

1 paper

NM_173465.4

p.L84L

c.250C>T

1 paper

NM_173465.4

p.L96Q

c.287T>A

1 paper

NM_173465.4

p.R107Q

c.320G>A

1 paper

NM_173465.4

p.A112V

c.335C>T

1 paper

NM_173465.4

p.E115K

c.343G>A

1 paper

NM_173465.4

p.G121Splc

c.362-13771A>G