Varaico: Literature-Extracted Genetic Variants

PCDHB16

76 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 30–112UCSCCadherin-like

Cadherinaa 139–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 353–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 16

HGNC Alias Symbols

PCDHB8a; PCDH3X; KIAA1621; PCDH-BETA16

Papers

RefSeq ID

Protein change

DNA change

1–12 of 87 variants

3 papers

NM_020957.4

p.V347L

c.1039G>C

3 papers

NM_020957.4

p.V347L

c.1039G>T

3 papers

NM_020957.4

p.T482I

c.1445C>T

2 papers

NM_020957.4

p.M6V

c.16A>G

2 papers

NM_020957.4

p.M138I

c.414G>A

2 papers

NM_020957.4

p.M138I

c.414G>C

2 papers

NM_020957.4

p.M138I

c.414G>T

2 papers

NM_020957.4

p.V167A

c.500T>C

2 papers

NM_020957.4

p.R202Q

c.605G>A

2 papers

NM_020957.4

p.D342H

c.1024G>C

2 papers

NM_020957.4

p.E406G

c.1217A>G

2 papers

NM_020957.4

p.L498L

c.1494G>T