Varaico: Literature-Extracted Genetic Variants

COL15A1

158 papers

RefSeq Summary

This gene encodes the alpha chain of type XV collagen, a member of the FACIT collagen family (fibril-associated collagens with interrupted helices). Type XV collagen has a wide tissue distribution but...

Pfam Domains

Collagenaa 617–678UCSCCollagen triple helix repeat (20 copies)

Collagenaa 670–734UCSCCollagen triple helix repeat (20 copies)

Collagenaa 820–868UCSCCollagen triple helix repeat (20 copies)

Collagenaa 877–929UCSCCollagen triple helix repeat (20 copies)

Collagen_trimeraa 1135–1183UCSCCollagen trimerization domain

Endostatinaa 1218–1383UCSCCollagenase NC10 and Endostatin

Gene Aliases

HGNC Name

collagen type XV alpha 1 chain

HGNC Previous Name

collagen, type XV, alpha 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_001855.5

p.V1332I

c.3994G>A

Surrounding Variants

1 paper

NM_001855.5

p.R1333C

c.3997C>T

1 paper

NM_001855.5

p.S1328I

c.3983G>T

1 paper

NM_001855.5

p.P1319L

c.3956C>T

1 paper

NM_001855.5

p.T1347K

c.4040C>A

1 paper

NM_001855.5

p.T1350M

c.4049C>T

1 paper

NM_001855.5

p.G1351G

c.4053A>G

1 paper

NM_001855.5

p.K1365I

c.4094A>T

1 paper

NM_001855.5

p.A1366A

c.4098A>G

1 paper

NM_001855.5

p.L1376I

c.4126C>A

1 paper

NM_001855.5

p.R1387fs

c.4159_4160fs

1 paper

NM_001855.5

p.R1387G

c.4159A>G

1 paper

NM_001855.5

p.M1313K

c.3938T>A