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.R235fs

c.703_704fs

Surrounding Variants

2 papers

NM_003737.4

p.R235Q

c.704G>A

1 paper

NM_003737.4

p.P234R

c.701C>G

1 paper

NM_003737.4

p.D229H

c.685G>C

1 paper

NM_003737.4

p.V243L

c.727G>T

1 paper

NM_003737.4

p.V243L

c.727G>C

1 paper

NM_003737.4

p.R218C

c.652C>T

1 paper

NM_003737.4

p.A254S

c.760G>T

1 paper

NM_003737.4

p.R215Q

c.644G>A

1 paper

NM_003737.4

p.D214N

c.640G>A

1 paper

NM_003737.4

p.A262D

c.785C>A

1 paper

NM_003737.4

p.V264L

c.790G>T

1 paper

NM_003737.4

p.V264L

c.790G>C