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

6 papers

NM_004370.6

p.R2726_R2727Splc

c.8178+3A>C

Surrounding Variants

2 papers

NM_004370.6

p.R2726del1

c.8176_8177delCCT

1 paper

NM_004370.6

p.V2713A

c.8138T>C

1 paper

NM_004370.6

p.V2709I

c.8125G>A

1 paper

NM_004370.6

p.R2726_R2727Splc

c.8179-2A>G

1 paper

NM_004370.6

p.P2736S

c.8206C>T

1 paper

NM_004370.6

p.C2739R

c.8215T>C

1 paper

NM_004370.6

p.V2746A

c.8237T>C

1 paper

NM_004370.6

p.G2750G

c.8250A>T

1 paper

NM_004370.6

p.G2753C

c.8257G>T

6 papers

NM_004370.6

p.A2755_G2756Splc

c.8265+1G>A

1 paper

NM_004370.6

p.A2755del1

c.8263_8264delTGC

1 paper

NM_004370.6

p.A2755_G2756Splc

c.8265+5G>A