Varaico: Literature-Extracted Genetic Variants

COL12A1

321 papers

RefSeq Summary

This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in ...

Pfam Domains

fn3aa 26–109UCSCFibronectin type III domain

VWAaa 140–311UCSCvon Willebrand factor type A domain

fn3aa 335–419UCSCFibronectin type III domain

VWAaa 440–611UCSCvon Willebrand factor type A domain

fn3aa 633–719UCSCFibronectin type III domain

fn3aa 724–806UCSCFibronectin type III domain

Gene Aliases

HGNC Name

collagen type XII alpha 1 chain

HGNC Previous Symbol

COL12A1L

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004370.6

p.G1959R

c.5875G>C

Surrounding Variants

1 paper

NM_004370.6

p.G1959*

c.5875G>T

1 paper

NM_004370.6

p.G1959R

c.5875G>A

1 paper

NM_004370.6

p.P1960T

c.5878C>A

1 paper

NM_004370.6

p.A1957A

c.5871T>A

1 paper

NM_004370.6

p.P1960H

c.5879C>A

1 paper

NM_004370.6

p.Y1964C

c.5891A>G

1 paper

NM_004370.6

p.R1953H

c.5858G>A

11 papers

NM_004370.6

p.R1965C

c.5893C>T

3 papers

NM_004370.6

p.R1965H

c.5894G>A

1 paper

NM_004370.6

p.V1966I

c.5896G>A

1 paper

NM_004370.6

p.S1969Y

c.5906C>A

1 paper

NM_004370.6

p.P1947S

c.5839C>T