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.E746G

c.2237A>G

Surrounding Variants

1 paper

NM_021110.4

p.T748I

c.2243C>T

1 paper

NM_021110.4

p.S750G

c.2248A>G

2 papers

NM_021110.4

p.V742A

c.2225T>C

1 paper

NM_021110.4

p.R752W

c.2254C>T

1 paper

NM_021110.4

p.D756G

c.2267A>G

1 paper

NM_021110.4

p.F765_R766delins

c.2293_2296delinsT

1 paper

NM_021110.4

p.V767L

c.2299G>C

1 paper

NM_021110.4

p.V767L

c.2299G>T

1 paper

NM_021110.4

p.T783M

c.2348C>T

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.W717*

c.2151G>A