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

7 papers

NM_003737.4

p.R2462Q

c.7385G>A

Surrounding Variants

1 paper

NM_003737.4

p.R2462_A2463insFs

c.7386_7387insCA

1 paper

NM_003737.4

p.A2463fs

c.7387_7388fs

4 papers

NM_003737.4

p.A2464P

c.7390G>C

1 paper

NM_003737.4

p.R2465*

c.7393C>T

1 paper

NM_003737.4

p.R2465Q

c.7394G>A

1 paper

NM_003737.4

p.R2455*

c.7363C>T

1 paper

NM_003737.4

p.V2470V

c.7410G>T

1 paper

NM_003737.4

p.H2478H

c.7434C>T

1 paper

NM_003737.4

p.P2480L

c.7439C>T

1 paper

NM_003737.4

p.H2486R

c.7457A>G

1 paper

NM_003737.4

p.D2494V

c.7481A>T

1 paper

NM_003737.4

p.L2501L

c.7503G>A