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.C596F

c.1787G>T

Surrounding Variants

1 paper

NM_003737.4

p.S586L

c.1757C>T

1 paper

NM_003737.4

p.A585T

c.1753G>A

1 paper

NM_003737.4

p.V566_Q569del4

c.1696_1706del12

1 paper

NM_003737.4

p.V566M

c.1696G>A

1 paper

NM_003737.4

p.V564I

c.1690G>A

1 paper

NM_003737.4

p.S560F

c.1679C>T

1 paper

NM_003737.4

p.P557H

c.1670C>A

1 paper

NM_003737.4

p.V548M

c.1642G>A

1 paper

NM_003737.4

p.E539Q

c.1615G>C

1 paper

NM_003737.4

p.T532M

c.1595C>T

1 paper

NM_003737.4

p.G528delFs

c.1583delC

1 paper

NM_003737.4

p.D524G

c.1571A>G