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.T2726S

c.8177C>G

Surrounding Variants

1 paper

NM_003737.4

p.T2726S

c.8176A>T

1 paper

NM_003737.4

p.H2729L

c.8186A>T

1 paper

NM_003737.4

p.G2733R

c.8197G>C

1 paper

NM_003737.4

p.G2733R

c.8197G>A

1 paper

NM_003737.4

p.D2734N

c.8200G>A

1 paper

NM_003737.4

p.A2716D

c.8147C>A

1 paper

NM_003737.4

p.L2741L

c.8223C>T

1 paper

NM_003737.4

p.R2742C

c.8224C>T

2 papers

NM_003737.4

p.A2757T

c.8269G>A

1 paper

NM_003737.4

p.R2768H

c.8303G>A

1 paper

NM_003737.4

p.A2769A

c.8307G>A

5 papers

NM_003737.4

p.R2770Q

c.8309G>A