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.G2878D

c.8633G>A

Surrounding Variants

1 paper

NM_003737.4

p.G2880R

c.8638G>C

1 paper

NM_003737.4

p.G2880R

c.8638G>A

1 paper

NM_003737.4

p.R2889W

c.8665C>T

4 papers

NM_003737.4

p.A2867T

c.8599G>A

1 paper

NM_003737.4

p.R2892Q

c.8675G>A

1 paper

NM_003737.4

p.E2897*

c.8689G>T

1 paper

NM_003737.4

p.G2906E

c.8717G>A

1 paper

NM_003737.4

p.P2909S

c.8725C>T

1 paper

NM_003737.4

p.G2843C

c.8527G>T

1 paper

NM_003737.4

p.V2920M

c.8758G>A

3 papers

NM_003737.4

p.R2827P

c.8480G>C

1 paper

NM_003737.4

p.E2824K

c.8470G>A