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.R633H

c.1898G>A

Surrounding Variants

1 paper

NM_018933.4

p.R633C

c.1897C>T

1 paper

NM_018933.4

p.V644I

c.1930G>A

1 paper

NM_018933.4

p.G613R

c.1837G>C

2 papers

NM_018933.4

p.G665V

c.1994G>T

1 paper

NM_018933.4

p.F666delFs

c.1998delC

1 paper

NM_018933.4

p.S667fs

c.1999_2000fs

1 paper

NM_018933.4

p.L585L

c.1755G>T

1 paper

NM_018933.4

p.L585P

c.1754T>C

1 paper

NM_018933.4

p.A681A

c.2043C>T

1 paper

NM_018933.4

p.T687S

c.2059A>T

1 paper

NM_018933.4

p.T687S

c.2060C>G

1 paper

NM_018933.4

p.T687T

c.2061C>T