Varaico: Literature-Extracted Genetic Variants

CDHR1

276 papers

RefSeq Summary

This gene belongs to the cadherin superfamily of calcium-dependent cell adhesion molecules. The encoded protein is a photoreceptor-specific cadherin that plays a role in outer segment disc morphogenes...

Pfam Domains

Cadherinaa 40–125UCSCCadherin domain

Cadherinaa 140–237UCSCCadherin domain

Cadherinaa 251–344UCSCCadherin domain

Cadherinaa 477–567UCSCCadherin domain

Cadherinaa 581–677UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin related family member 1

HGNC Previous Symbol

PCDH21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_033100.4

p.D127N

c.379G>A

Surrounding Variants

1 paper

NM_033100.4

p.A128G

c.383C>G

6 papers

NM_033100.4

p.N129S

c.386A>G

1 paper

NM_033100.4

p.E131Q

c.391G>C

1 paper

NM_033100.4

p.V121A

c.362T>C

3 papers

NM_033100.4

p.P133R

c.398C>G

1 paper

NM_033100.4

p.R134S

c.402G>C

1 paper

NM_033100.4

p.R134S

c.402G>T

1 paper

NM_033100.4

p.I136I

c.408C>T

2 papers

NM_033100.4

p.L116_V117Splc

c.349-1G>A

1 paper

NM_033100.4

p.L116_V117Splc

c.349-3C>G

1 paper

NM_033100.4

p.P139R

c.416C>G

3 papers

NM_033100.4

p.Y140*

c.420T>A