Varaico: Literature-Extracted Genetic Variants

DCHS2

177 papers

RefSeq Summary

This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimer's dise...

Pfam Domains

Cadherinaa 69–146UCSCCadherin domain

Cadherinaa 301–404UCSCCadherin domain

Cadherinaa 423–530UCSCCadherin domain

Cadherinaa 544–654UCSCCadherin domain

Cadherinaa 668–762UCSCCadherin domain

Cadherinaa 776–866UCSCCadherin domain

Gene Aliases

HGNC Name

dachsous cadherin-related 2

HGNC Previous Symbols

CDH27; PCDH23

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001358235.2

p.N1011T

c.3032A>C

Surrounding Variants

1 paper

NM_001358235.2

p.R1010P

c.3029G>C

1 paper

NM_001358235.2

p.Y1016H

c.3046T>C

1 paper

NM_001358235.2

p.R1002S

c.3004C>A

1 paper

NM_001358235.2

p.Q1022*

c.3064C>T

1 paper

NM_001358235.2

p.P1023R

c.3068C>G

1 paper

NM_001358235.2

p.P1023P

c.3069A>T

1 paper

NM_001358235.2

p.R1030T

c.3089G>C

1 paper

NM_001358235.2

p.F1036fs

c.3106_3107fs

1 paper

NM_001358235.2

p.F1036delFs

c.3106_3107delAA

1 paper

NM_001358235.2

p.G1044S

c.3130G>A

1 paper

NM_001358235.2

p.R1047Q

c.3140G>A

1 paper

NM_001358235.2

p.D974E

c.2922C>G