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

1–12 of 696 variants

14 papers

NM_004370.6

p.G3058S

c.9172G>A

11 papers

NM_004370.6

p.R1965C

c.5893C>T

11 papers

NM_004370.6

p.G2786D

c.8357G>A

9 papers

NM_004370.6

p.I2334T

c.7001T>C

9 papers

NM_004370.6

p.G2777R

c.8329G>C

8 papers

NM_004370.6

p.A2700_F2701Splc

c.8100+2T>C

8 papers

NM_004370.6

p.R2779H

c.8336G>A

6 papers

NM_004370.6

p.E2160V

c.6479A>T

6 papers

NM_004370.6

p.R2726_R2727Splc

c.8178+3A>C

6 papers

NM_004370.6

p.A2755_G2756Splc

c.8265+1G>A

6 papers

NM_004370.6

p.G2818E

c.8453G>A

5 papers

NM_004370.6

p.G2399E

c.7196G>A