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.V462I

c.1384G>A

Surrounding Variants

1 paper

NM_003737.4

p.V462V

c.1386C>G

2 papers

NM_003737.4

p.R474H

c.1421G>A

1 paper

NM_003737.4

p.L476F

c.1426C>T

1 paper

NM_003737.4

p.R478*

c.1432C>T

1 paper

NM_003737.4

p.P481S

c.1441C>T

2 papers

NM_003737.4

p.V442I

c.1324G>A

1 paper

NM_003737.4

p.L440F

c.1320G>T

1 paper

NM_003737.4

p.L440F

c.1320G>C

1 paper

NM_003737.4

p.A486P

c.1456G>C

1 paper

NM_003737.4

p.D436A

c.1307A>C

1 paper

NM_003737.4

p.R432Q

c.1295G>A

1 paper

NM_003737.4

p.R498L

c.1493G>T