Varaico: Literature-Extracted Genetic Variants

COL13A1

67 papers

RefSeq Summary

This gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue-producing c...

Pfam Domains

Collagenaa 116–178UCSCCollagen triple helix repeat (20 copies)

Collagenaa 156–216UCSCCollagen triple helix repeat (20 copies)

Collagenaa 257–322UCSCCollagen triple helix repeat (20 copies)

Collagenaa 318–383UCSCCollagen triple helix repeat (20 copies)

Collagenaa 382–441UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XIII alpha 1 chain

HGNC Previous Name

collagen, type XIII, alpha 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 96 variants

4 papers

NM_001130103.2

p.G391delFs

c.1171delG

2 papers

NM_001368882.1

p.P120S

c.358C>T

2 papers

NM_001368882.1

p.P174L

c.521C>T

2 papers

NM_001368882.1

p.K381_G382Splc

c.1144-2A>C

2 papers

NM_080798.4

p.G391delFs

c.1171delG

1 paper

NM_001368882.1

p.E4V

c.11A>T

1 paper

NM_001368882.1

p.A11T

c.31G>A

1 paper

NM_001368882.1

p.A30A

c.90G>T

1 paper

NM_001368882.1

p.P40S

c.118C>T

1 paper

NM_001368882.1

p.V72G

c.215T>G

1 paper

NM_001368882.1

p.Q83K

c.247C>A

1 paper

NM_001368882.1

p.R91*

c.271C>T