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

9 papers

NM_004370.6

p.G2777R

c.8329G>C

Surrounding Variants

1 paper

NM_004370.6

p.G2777fs

c.8329_8330fs

1 paper

NM_004370.6

p.G2777delFs

c.8330delC

8 papers

NM_004370.6

p.R2779H

c.8336G>A

1 paper

NM_004370.6

p.G2774E

c.8321G>A

2 papers

NM_004370.6

p.P2784H

c.8351C>A

1 paper

NM_004370.6

p.G2786R

c.8356G>C

11 papers

NM_004370.6

p.G2786D

c.8357G>A

2 papers

NM_004370.6

p.P2790L

c.8369C>T

2 papers

NM_004370.6

p.N2797S

c.8390A>G

2 papers

NM_004370.6

p.Q2805_G2806Splc

c.8415+1G>A

1 paper

NM_004370.6

p.Q2805del1

c.8413_8414delTTG

2 papers

NM_004370.6

p.R2807H

c.8420G>A