Varaico: Literature-Extracted Genetic Variants

COL21A1

111 papers

RefSeq Summary

This gene encodes the alpha chain of type XXI collagen, a member of the FACIT (fibril-associated collagens with interrupted helices) collagen family. Type XXI collagen is localized to tissues containi...

Pfam Domains

VWAaa 37–206UCSCvon Willebrand factor type A domain

Collagenaa 446–507UCSCCollagen triple helix repeat (20 copies)

Collagenaa 482–558UCSCCollagen triple helix repeat (20 copies)

Collagenaa 727–790UCSCCollagen triple helix repeat (20 copies)

Collagenaa 824–884UCSCCollagen triple helix repeat (20 copies)

Gene Aliases

HGNC Name

collagen type XXI alpha 1 chain

HGNC Previous Name

collagen, type XXI, alpha 1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 273 variants

3 papers

NM_030820.4

p.R226H

c.677G>A

3 papers

NM_030820.4

p.T343M

c.1028C>T

3 papers

NM_030820.4

p.P583R

c.1748C>G

2 papers

NM_030820.4

p.V61F

c.181G>T

2 papers

NM_030820.4

p.G112R

c.334G>C

2 papers

NM_030820.4

p.G112R

c.334G>A

2 papers

NM_030820.4

p.G315C

c.943G>T

2 papers

NM_030820.4

p.P443S

c.1327C>T

2 papers

NM_030820.4

p.A594T

c.1780G>A

2 papers

NM_030820.4

p.P646S

c.1936C>T

2 papers

NM_030820.4

p.G665V

c.1994G>T

2 papers

NM_030820.4

p.G770E

c.2309G>A