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

8 papers

NM_004370.6

p.A2700_F2701Splc

c.8100+2T>C

Surrounding Variants

1 paper

NM_004370.6

p.A2700del1

c.8098_8099delTGC

1 paper

NM_004370.6

p.A2700S

c.8098G>T

2 papers

NM_004370.6

p.A2700T

c.8098G>A

5 papers

NM_004370.6

p.G2689R

c.8065G>C

5 papers

NM_004370.6

p.G2689R

c.8065G>A

1 paper

NM_004370.6

p.Y2667*

c.8001T>G

1 paper

NM_004370.6

p.Y2667*

c.8001T>A

1 paper

NM_004370.6

p.C2666C

c.7998C>T

1 paper

NM_004370.6

p.I2664V

c.7990A>G

1 paper

NM_004370.6

p.S2657T

c.7969T>A

1 paper

NM_004370.6

p.V2709I

c.8125G>A

1 paper

NM_004370.6

p.V2713A

c.8138T>C