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.D336G

c.1007A>G

Surrounding Variants

1 paper

NM_003737.4

p.A334S

c.1000G>T

1 paper

NM_003737.4

p.E329fs

c.985_986fs

1 paper

NM_003737.4

p.A346V

c.1037C>T

1 paper

NM_003737.4

p.H351H

c.1053T>C

1 paper

NM_003737.4

p.R318W

c.952C>T

1 paper

NM_003737.4

p.D308V

c.923A>T

1 paper

NM_003737.4

p.F305F

c.915C>T

1 paper

NM_003737.4

p.L367I

c.1099C>A

1 paper

NM_003737.4

p.A369T

c.1105G>A

1 paper

NM_003737.4

p.D302V

c.905A>T

2 papers

NM_003737.4

p.S372F

c.1115C>T

1 paper

NM_003737.4

p.R296L

c.887G>T