Varaico: Literature-Extracted Genetic Variants

PCDHB13

84 papers

RefSeq Summary

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization simil...

Pfam Domains

Cadherin_2aa 31–113UCSCCadherin-like

Cadherinaa 140–234UCSCCadherin domain

Cadherinaa 248–339UCSCCadherin domain

Cadherinaa 353–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 13

HGNC Alias Symbol

PCDH-BETA13

Papers

RefSeq ID

Protein change

DNA change

1–12 of 86 variants

8 papers

NM_018933.4

p.G259S

c.775G>A

6 papers

NM_018933.4

p.V258I

c.772G>A

4 papers

NM_018933.4

p.V163I

c.487G>A

3 papers

NM_018933.4

p.A554S

c.1660G>T

2 papers

NM_018933.4

p.S147N

c.440G>A

2 papers

NM_018933.4

p.E311K

c.931G>A

2 papers

NM_018933.4

p.V550L

c.1648G>C

2 papers

NM_018933.4

p.V550L

c.1648G>T

2 papers

NM_018933.4

p.G665V

c.1994G>T

1 paper

NM_018933.4

p.L15I

c.43C>A

1 paper

NM_018933.4

p.S35F

c.104C>T

1 paper

NM_018933.4

p.G54S

c.160G>A