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.A3263P

c.9787G>C

Surrounding Variants

1 paper

NM_003737.4

p.A3263T

c.9787G>A

1 paper

NM_003737.4

p.S3278*

c.9833C>G

1 paper

NM_003737.4

p.S3278*

c.9833C>A

1 paper

NM_003737.4

p.L3245M

c.9733C>A

1 paper

NM_003737.4

p.G3243D

c.9728G>A

1 paper

NM_003737.4

p.P3238delFs

c.9714delG

1 paper

NM_003737.4

p.P3238fs

c.9712_9713fs

1 paper

NM_003737.4

p.R3236L

c.9707G>T

1 paper

NM_003737.4

p.E3295K

c.9883G>A

1 paper

NM_003737.4

p.P3217H

c.9650C>A

1 paper

NM_003737.4

p.P3211Q

c.9632C>A

1 paper

NM_003737.4

p.A3207V

c.9620C>T