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.V737E

c.2210T>A

Surrounding Variants

1 paper

NM_018933.4

p.S740S

c.2220C>T

1 paper

NM_018933.4

p.P731S

c.2191C>T

1 paper

NM_018933.4

p.T744T

c.2232C>G

1 paper

NM_018933.4

p.P728P

c.2184C>A

1 paper

NM_018933.4

p.A719V

c.2156C>T

1 paper

NM_018933.4

p.V688I

c.2062G>A

1 paper

NM_018933.4

p.T687T

c.2061C>T

1 paper

NM_018933.4

p.T687S

c.2060C>G

1 paper

NM_018933.4

p.T687S

c.2059A>T

1 paper

NM_018933.4

p.N792K

c.2376C>A

1 paper

NM_018933.4

p.N792K

c.2376C>G

1 paper

NM_018933.4

p.A681A

c.2043C>T