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

2 papers

NM_021110.4

p.A291S

c.871G>T

Surrounding Variants

1 paper

NM_021110.4

p.R283C

c.847C>T

1 paper

NM_021110.4

p.L282I

c.844C>A

1 paper

NM_021110.4

p.I266F

c.796A>T

1 paper

NM_021110.4

p.F249L

c.747C>A

1 paper

NM_021110.4

p.F249L

c.747C>G

1 paper

NM_021110.4

p.F249L

c.745T>C

1 paper

NM_021110.4

p.I244N

c.731T>A

1 paper

NM_021110.4

p.T235K

c.704C>A

1 paper

NM_021110.4

p.D219N

c.655G>A

1 paper

NM_021110.4

p.T217R

c.650C>G

1 paper

NM_021110.4

p.E209K

c.625G>A

1 paper

NM_021110.4

p.I208T

c.623T>C