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.P3020S

c.9058C>T

Surrounding Variants

1 paper

NM_003737.4

p.G3012R

c.9034G>C

1 paper

NM_003737.4

p.G3012R

c.9034G>A

2 papers

NM_003737.4

p.A3039P

c.9115G>C

3 papers

NM_003737.4

p.D3042E

c.9126T>G

3 papers

NM_003737.4

p.D3042E

c.9126T>A

1 paper

NM_003737.4

p.E3043D

c.9129G>T

1 paper

NM_003737.4

p.R2991fs

c.8971_8972fs

1 paper

NM_003737.4

p.R2991L

c.8972G>T

1 paper

NM_003737.4

p.R2991insFs

c.8972_8973insA

2 papers

NM_003737.4

p.R2991Q

c.8972G>A

1 paper

NM_003737.4

p.R3052C

c.9154C>T

1 paper

NM_003737.4

p.Q2977Q

c.8931G>A