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.Q2279K

c.6835C>A

Surrounding Variants

1 paper

NM_003737.4

p.R2274P

c.6821G>C

2 papers

NM_003737.4

p.R2284*

c.6850C>T

1 paper

NM_003737.4

p.N2271S

c.6812A>G

1 paper

NM_003737.4

p.T2264M

c.6791C>T

1 paper

NM_003737.4

p.G2259D

c.6776G>A

1 paper

NM_003737.4

p.A2289V

c.6866C>T

1 paper

NM_003737.4

p.F2322L

c.6964T>C

1 paper

NM_003737.4

p.F2322L

c.6966C>G

1 paper

NM_003737.4

p.F2322L

c.6966C>A

1 paper

NM_003737.4

p.S2323C

c.6967A>T

1 paper

NM_003737.4

p.R2326C

c.6976C>T

11 papers

NM_003737.4

p.R2330C

c.6988C>T