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

Selected Variant

1 paper

NM_021110.4

p.L835S

c.2504T>C

Surrounding Variants

1 paper

NM_021110.4

p.S838Y

c.2513C>A

1 paper

NM_021110.4

p.S830S

c.2490G>A

1 paper

NM_021110.4

p.S829F

c.2486C>T

1 paper

NM_021110.4

p.P828A

c.2482C>G

1 paper

NM_021110.4

p.N843H

c.2527A>C

2 papers

NM_021110.4

p.R844W

c.2530C>T

1 paper

NM_021110.4

p.R846L

c.2537G>T

2 papers

NM_021110.4

p.T848M

c.2543C>T

1 paper

NM_021110.4

p.P852Q

c.2555C>A

1 paper

NM_021110.4

p.P855T

c.2563C>A

1 paper

NM_021110.4

p.P855L

c.2564C>T

1 paper

NM_021110.4

p.V862F

c.2584G>T