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

Selected Variant

1 paper

NM_020957.4

p.D91E

c.273T>A

Surrounding Variants

1 paper

NM_020957.4

p.D91E

c.273T>G

1 paper

NM_020957.4

p.D91H

c.271G>C

1 paper

NM_020957.4

p.P113H

c.338C>A

1 paper

NM_020957.4

p.K136N

c.408G>C

1 paper

NM_020957.4

p.K136N

c.408G>T

1 paper

NM_020957.4

p.A46G

c.137C>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

1 paper

NM_020957.4

p.R41K

c.122G>A

1 paper

NM_020957.4

p.T39M

c.116C>T

1 paper

NM_020957.4

p.E38V

c.113A>T