Varaico: Literature-Extracted Genetic Variants

COL14A1

170 papers

RefSeq Summary

This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril...

Pfam Domains

fn3aa 31–114UCSCFibronectin type III domain

VWAaa 158–329UCSCvon Willebrand factor type A domain

fn3aa 354–437UCSCFibronectin type III domain

fn3aa 444–529UCSCFibronectin type III domain

fn3aa 536–621UCSCFibronectin type III domain

fn3aa 625–709UCSCFibronectin type III domain

Gene Aliases

HGNC Name

collagen type XIV alpha 1 chain

HGNC Previous Symbol

UND

Papers

RefSeq ID

Protein change

DNA change

1–12 of 267 variants

8 papers

NM_021110.4

p.N563H

c.1687A>C

6 papers

NM_021110.4

p.V1342L

c.4024G>C

3 papers

NM_021110.4

p.D189G

c.566A>G

3 papers

NM_021110.4

p.G967E

c.2900G>A

2 papers

NM_021110.4

p.A291S

c.871G>T

2 papers

NM_021110.4

p.M413I

c.1239G>A

2 papers

NM_021110.4

p.M413I

c.1239G>C

2 papers

NM_021110.4

p.M413I

c.1239G>T

2 papers

NM_021110.4

p.V454M

c.1360G>A

2 papers

NM_021110.4

p.S458N

c.1373G>A

2 papers

NM_021110.4

p.V742A

c.2225T>C

2 papers

NM_021110.4

p.R844W

c.2530C>T