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.F716L

c.2148T>A

Surrounding Variants

1 paper

NM_021110.4

p.F716L

c.2148T>G

1 paper

NM_021110.4

p.W717*

c.2150G>A

1 paper

NM_021110.4

p.F716L

c.2146T>C

1 paper

NM_021110.4

p.W717*

c.2151G>A

1 paper

NM_021110.4

p.E719D

c.2157A>C

1 paper

NM_021110.4

p.E719D

c.2157A>T

1 paper

NM_021110.4

p.V691F

c.2071G>T

1 paper

NM_021110.4

p.T687T

c.2061G>A

1 paper

NM_021110.4

p.G682C

c.2044G>T

1 paper

NM_021110.4

p.E668_V669Splc

c.2004+7T>A

1 paper

NM_021110.4

p.T636M

c.1907C>T

1 paper

NM_021110.4

p.Y629C

c.1886A>G