Varaico: Literature-Extracted Genetic Variants

CDHR2

117 papers

RefSeq Summary

This gene is a member of the protocadherin family, which represents a subset of the larger cadherin superfamily. The members of the protocadherin family encode non-classical cadherins that function as...

Pfam Domains

Cadherinaa 31–115UCSCCadherin domain

Cadherinaa 129–225UCSCCadherin domain

Cadherinaa 246–342UCSCCadherin domain

Cadherinaa 485–577UCSCCadherin domain

Cadherinaa 590–686UCSCCadherin domain

Cadherinaa 700–799UCSCCadherin domain

Gene Aliases

HGNC Name

cadherin related family member 2

HGNC Previous Symbol

PCDH24

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017675.6

p.V796_N797delFs

c.2386_2389del4

Surrounding Variants

2 papers

NM_017675.6

p.V796M

c.2386G>A

2 papers

NM_017675.6

p.V794I

c.2380G>A

1 paper

NM_017675.6

p.P806insFs

c.2418dupC

1 paper

NM_017675.6

p.G788delFs

c.2363delG

1 paper

NM_017675.6

p.Q786fs

c.2356_2357fs

1 paper

NM_017675.6

p.T807fs

c.2419_2420fs

1 paper

NM_017675.6

p.E820Q

c.2458G>C

1 paper

NM_017675.6

p.L766P

c.2297T>C

1 paper

NM_017675.6

p.S834L

c.2501C>T

1 paper

NM_017675.6

p.L842M

c.2524C>A

1 paper

NM_017675.6

p.R745*

c.2233C>T

1 paper

NM_017675.6

p.F742V

c.2224T>G