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

1–12 of 358 variants

43 papers

NM_033100.4

p.P261P

c.783G>A

25 papers

NM_033100.4

p.I841_E843delFs

c.2522_2528del7

19 papers

NM_033100.4

p.I841fs

c.2521_2522fs

14 papers

NM_033100.4

p.G487delFs

c.1459delG

13 papers

NM_033100.4

p.I676N

c.2027T>A

12 papers

NM_033100.4

p.T495_A496Splc

c.1485+2T>C

11 papers

NM_033100.4

p.G113delFs

c.338delG

10 papers

NM_033100.4

p.Q461*

c.1381C>T

9 papers

NM_033100.4

p.T495_A496Splc

c.1485+2T>G

8 papers

NM_033100.4

p.E201K

c.601G>A

8 papers

NM_033100.4

p.N623S

c.1868A>G

7 papers

NM_033100.4

p.Q175insFs

c.524dupA