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.L2828F

c.8484A>T

Surrounding Variants

1 paper

NM_004370.6

p.L2828F

c.8484A>C

1 paper

NM_004370.6

p.P2832R

c.8495C>G

1 paper

NM_004370.6

p.G2824E

c.8471G>A

2 papers

NM_004370.6

p.P2834R

c.8501C>G

3 papers

NM_004370.6

p.R2822*

c.8464C>T

1 paper

NM_004370.6

p.G2821D

c.8462G>A

6 papers

NM_004370.6

p.G2818E

c.8453G>A

2 papers

NM_004370.6

p.R2807H

c.8420G>A

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.N2797S

c.8390A>G

2 papers

NM_004370.6

p.P2790L

c.8369C>T