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.L2210fs

c.6628_6629fs

Surrounding Variants

1 paper

NM_004370.6

p.Y2213delFs

c.6638delT

1 paper

NM_004370.6

p.W2224R

c.6670T>C

1 paper

NM_004370.6

p.W2224R

c.6670T>A

1 paper

NM_004370.6

p.R2228W

c.6682C>T

1 paper

NM_004370.6

p.K2236K

c.6708A>G

1 paper

NM_004370.6

p.G2245G

c.6735A>G

1 paper

NM_004370.6

p.T2249delFs

c.6747delT

2 papers

NM_004370.6

p.R2251H

c.6752G>A

1 paper

NM_004370.6

p.G2200R

c.6598G>C

3 papers

NM_004370.6

p.T2197I

c.6590C>T

1 paper

NM_004370.6

p.D2189N

c.6565G>A

1 paper

NM_004370.6

p.P2176S

c.6526C>T