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.F305F

c.915C>T

Surrounding Variants

1 paper

NM_003737.4

p.D308V

c.923A>T

1 paper

NM_003737.4

p.D302V

c.905A>T

1 paper

NM_003737.4

p.R296L

c.887G>T

1 paper

NM_003737.4

p.R318W

c.952C>T

1 paper

NM_003737.4

p.E293K

c.877G>A

1 paper

NM_003737.4

p.V290A

c.869T>C

1 paper

NM_003737.4

p.V290delFs

c.868delC

1 paper

NM_003737.4

p.G288R

c.862G>C

1 paper

NM_003737.4

p.G288R

c.862G>A

1 paper

NM_003737.4

p.G285V

c.854G>T

1 paper

NM_003737.4

p.G285D

c.854G>A

1 paper

NM_003737.4

p.E329fs

c.985_986fs