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

Selected Variant

1 paper

NM_018933.4

p.P102S

c.304C>T

Surrounding Variants

1 paper

NM_018933.4

p.E112Q

c.334G>C

1 paper

NM_018933.4

p.A120V

c.359C>T

1 paper

NM_018933.4

p.V133I

c.397G>A

1 paper

NM_018933.4

p.R70I

c.209G>T

2 papers

NM_018933.4

p.S147N

c.440G>A

1 paper

NM_018933.4

p.E56K

c.166G>A

1 paper

NM_018933.4

p.G54S

c.160G>A

4 papers

NM_018933.4

p.V163I

c.487G>A

1 paper

NM_018933.4

p.S35F

c.104C>T

1 paper

NM_018933.4

p.R180W

c.538C>T

1 paper

NM_018933.4

p.R186S

c.556C>A

1 paper

NM_018933.4

p.L15I

c.43C>A