Varaico: Literature-Extracted Genetic Variants

COL27A1

192 papers

RefSeq Summary

This gene encodes a member of the fibrillar collagen family, and plays a role during the calcification of cartilage and the transition of cartilage to bone. The encoded protein product is a preproprot...

Pfam Domains

Collagenaa 624–685UCSCCollagen triple helix repeat (20 copies)

Collagenaa 682–747UCSCCollagen triple helix repeat (20 copies)

Collagenaa 823–899UCSCCollagen triple helix repeat (20 copies)

Collagenaa 877–950UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1222–1290UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1279–1339UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XXVII alpha 1 chain

HGNC Alias Symbols

KIAA1870; MGC11337; FLJ11895

Papers

RefSeq ID

Protein change

DNA change

1–12 of 255 variants

21 papers

NM_032888.4

p.G697R

c.2089G>A

21 papers

NM_032888.4

p.G697R

c.2089G>C

6 papers

NM_032888.4

p.I611F

c.1831A>T

6 papers

NM_032888.4

p.R707*

c.2119C>T

6 papers

NM_032888.4

p.R1185_G1186Splc

c.3556-2A>G

6 papers

NM_032888.4

p.Q1420_G1421Splc

c.4261-1G>A

4 papers

NM_032888.4

p.V89I

c.265G>A

4 papers

NM_032888.4

p.Q120R

c.359A>G

4 papers

NM_032888.4

p.C174fs

c.520_521fs

4 papers

NM_032888.4

p.C174_Q176delFs

c.521_528del8

4 papers

NM_032888.4

p.P521_S528del8

c.1561_1583del24

4 papers

NM_032888.4

p.G904R

c.2710G>A