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.I208T

c.623T>C

Surrounding Variants

1 paper

NM_021110.4

p.E209K

c.625G>A

1 paper

NM_021110.4

p.R207I

c.620G>T

1 paper

NM_021110.4

p.G204G

c.612T>C

1 paper

NM_021110.4

p.T217R

c.650C>G

1 paper

NM_021110.4

p.D219N

c.655G>A

1 paper

NM_021110.4

p.T235K

c.704C>A

1 paper

NM_021110.4

p.G191V

c.572G>T

3 papers

NM_021110.4

p.D189G

c.566A>G

1 paper

NM_021110.4

p.D189N

c.565G>A

1 paper

NM_021110.4

p.L184ins1

c.550_551insAAT

1 paper

NM_021110.4

p.L184ins1

c.551_552insAAT

1 paper

NM_021110.4

p.F180delFs

c.540delC