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

6 papers

NM_003737.4

p.T1949M

c.5846C>T

Surrounding Variants

1 paper

NM_003737.4

p.T1943A

c.5827A>G

1 paper

NM_003737.4

p.P1961L

c.5882C>T

1 paper

NM_003737.4

p.S1977G

c.5929A>G

1 paper

NM_003737.4

p.A1984A

c.5952C>T

1 paper

NM_003737.4

p.D1990V

c.5969A>T

1 paper

NM_003737.4

p.R1991S

c.5971C>A

2 papers

NM_003737.4

p.R1991H

c.5972G>A

1 paper

NM_003737.4

p.P1906L

c.5717C>T

2 papers

NM_003737.4

p.A1899A

c.5697A>G

1 paper

NM_003737.4

p.A1899V

c.5696C>T

1 paper

NM_003737.4

p.A1896delFs

c.5686_5687delGC

1 paper

NM_003737.4

p.A1896T

c.5686G>A