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

3 papers

NM_003737.4

p.P197L

c.590C>T

Surrounding Variants

1 paper

NM_003737.4

p.P197H

c.590C>A

1 paper

NM_003737.4

p.T195T

c.585A>T

1 paper

NM_003737.4

p.P199R

c.596C>G

1 paper

NM_003737.4

p.E194A

c.581A>C

2 papers

NM_003737.4

p.P203A

c.607C>G

1 paper

NM_003737.4

p.P203L

c.608C>T

1 paper

NM_003737.4

p.E189_T190delFs

c.566_569del4

1 paper

NM_003737.4

p.G184A

c.551G>C

1 paper

NM_003737.4

p.S183F

c.548C>T

1 paper

NM_003737.4

p.A181A

c.543G>A

1 paper

NM_003737.4

p.A181V

c.542C>T

1 paper

NM_003737.4

p.D214N

c.640G>A