Varaico: Literature-Extracted Genetic Variants

COL17A1

436 papers

RefSeq Summary

This gene encodes the alpha chain of type XVII collagen. Unlike most collagens, collagen XVII is a transmembrane protein. Collagen XVII is a structural component of hemidesmosomes, multiprotein comple...

Pfam Domains

Collagenaa 561–622UCSCCollagen triple helix repeat (20 copies)

Collagenaa 749–809UCSCCollagen triple helix repeat (20 copies)

Collagenaa 1434–1488UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XVII alpha 1 chain

HGNC Previous Symbol

BPAG2

Papers

RefSeq ID

Protein change

DNA change

1–12 of 995 variants

45 papers

NM_000494.4

p.R1226*

c.3676C>T

33 papers

NM_000494.4

p.R1303Q

c.3908G>A

21 papers

NM_000494.4

p.G627V

c.1880G>T

20 papers

NM_000494.4

p.R795*

c.2383C>T

14 papers

NM_000494.4

p.G1052G

c.3156C>T

13 papers

NM_000494.4

p.T210M

c.629C>T

12 papers

NM_000494.4

p.G633D

c.1898G>A

12 papers

NM_000494.4

p.T939I

c.2816C>T

11 papers

NM_000494.4

p.G258*

c.772G>T

11 papers

NM_000494.4

p.G612R

c.1834G>C

11 papers

NM_000494.4

p.G612R

c.1834G>A

11 papers

NM_000494.4

p.R625*

c.1873C>T