Varaico: Literature-Extracted Genetic Variants

Gene:COL20A1

COL20A1

82 papers

Pfam Domains

VWAaa 179–349UCSCvon Willebrand factor type A domain
fn3aa 378–463UCSCFibronectin type III domain
fn3aa 468–551UCSCFibronectin type III domain
fn3aa 558–645UCSCFibronectin type III domain
fn3aa 648–733UCSCFibronectin type III domain
fn3aa 742–828UCSCFibronectin type III domain

Gene Aliases

HGNC Name

collagen type XX alpha 1 chain

HGNC Alias Symbol

KIAA1510

Papers
RefSeq ID
Protein change
DNA change
1–12 of 137 variants
2 papers
NM_020882.4
p.T288M
c.863C>T
2 papers
NM_020882.4
p.T612M
c.1835C>T
2 papers
NM_020882.4
p.Y678C
c.2033A>G
2 papers
NM_020882.4
p.T701M
c.2102C>T
2 papers
NM_020882.4
p.R726H
c.2177G>A
2 papers
NM_020882.4
p.R767H
c.2300G>A
2 papers
NM_020882.4
p.A1059T
c.3175G>A
1 paper
NM_020882.4
p.C12F
c.35G>T
1 paper
NM_020882.4
p.E48Q
c.142G>C
1 paper
NM_020882.4
p.L57L
c.169C>T
1 paper
NM_020882.4
p.E70K
c.208G>A
1 paper
NM_020882.4
p.T81R
c.242C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."