Varaico: Literature-Extracted Genetic Variants

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

Selected Variant

1 paper

NM_003737.4

p.S404T

c.1210T>A

Surrounding Variants

1 paper

NM_003737.4

p.G407_G408insFs

c.1221_1222insC

1 paper

NM_003737.4

p.H411Y

c.1231C>T

1 paper

NM_003737.4

p.A413V

c.1238C>T

4 papers

NM_003737.4

p.S415R

c.1243A>C

4 papers

NM_003737.4

p.S415R

c.1245C>G

4 papers

NM_003737.4

p.S415R

c.1245C>A

1 paper

NM_003737.4

p.S419N

c.1256G>A

1 paper

NM_003737.4

p.V420I

c.1258G>A

1 paper

NM_003737.4

p.Y422F

c.1265A>T

1 paper

NM_003737.4

p.R432Q

c.1295G>A

2 papers

NM_003737.4

p.S372F

c.1115C>T

1 paper

NM_003737.4

p.D436A

c.1307A>C