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.E4D

c.12G>C

Surrounding Variants

1 paper

NM_003737.4

p.G6R

c.16G>C

1 paper

NM_003737.4

p.G6S

c.16G>A

1 paper

NM_003737.4

p.M1delins

c.3delinsTTTTAGATCCATATTTTAG

1 paper

NM_003737.4

p.M1I

c.3G>A

1 paper

NM_003737.4

p.M1K

c.2T>A

3 papers

NM_003737.4

p.C11delFs

c.33delG

1 paper

NM_003737.4

p.K15_S16insFs

c.45_46insT

1 paper

NM_003737.4

p.R18G

c.52A>G

1 paper

NM_003737.4

p.L25_L26insFs

c.75_76insA

1 paper

NM_003737.4

p.L29_L30ins1

c.87_88insCTG

1 paper

NM_003737.4

p.L32_L33ins1

c.96_97insCTG

1 paper

NM_003737.4

p.L33_G34insL

c.97_101ins3