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.R112Q

c.335G>A

Surrounding Variants

1 paper

NM_003737.4

p.R114C

c.340C>T

1 paper

NM_003737.4

p.R105C

c.313C>T

1 paper

NM_003737.4

p.R102H

c.305G>A

1 paper

NM_003737.4

p.V101F

c.301G>T

2 papers

NM_003737.4

p.V100_V101insCTG

c.298_302ins9

5 papers

NM_003737.4

p.H97_G99del3

c.289_296del9

1 paper

NM_003737.4

p.I94_G99del6

c.280_296del18

1 paper

NM_003737.4

p.G99_V100insCT

c.295_299ins6

7 papers

NM_003737.4

p.G99_V100insCTG

c.295_299ins9

3 papers

NM_003737.4

p.V127I

c.379G>A

1 paper

NM_003737.4

p.E96_H97insCTG

c.286_290ins9

1 paper

NM_003737.4

p.V129L

c.385G>C