Varaico: Literature-Extracted Genetic Variants

Gene:DCHS1

DCHS1

318 papers

RefSeq Summary

This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique...

Pfam Domains

Cadherinaa 48–134UCSCCadherin domain
Cadherinaa 149–246UCSCCadherin domain
Cadherinaa 260–353UCSCCadherin domain
Cadherinaa 372–463UCSCCadherin domain
Cadherinaa 479–569UCSCCadherin domain
Cadherinaa 583–675UCSCCadherin domain

Gene Aliases

HGNC Name

dachsous cadherin-related 1

HGNC Previous Symbols

CDH25; PCDH16

Papers
RefSeq ID
Protein change
DNA change
1–12 of 452 variants
13 papers
NM_003737.4
p.R2513H
c.7538G>A
11 papers
NM_003737.4
p.R2330C
c.6988C>T
8 papers
NM_003737.4
p.L33del1
c.97_98delCAG
7 papers
NM_003737.4
p.L33_G34ins1
c.99_100insCTG
7 papers
NM_003737.4
p.G34ins1
c.100_101insCTG
7 papers
NM_003737.4
p.G99_V100insCTG
c.295_299ins9
7 papers
NM_003737.4
p.R2462Q
c.7385G>A
6 papers
NM_003737.4
p.T1949M
c.5846C>T
5 papers
NM_003737.4
p.H97_G99del3
c.289_296del9
5 papers
NM_003737.4
p.R2770Q
c.8309G>A
4 papers
NM_003737.4
p.S415R
c.1243A>C
4 papers
NM_003737.4
p.S415R
c.1245C>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."