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.G325R

c.973G>C

Surrounding Variants

1 paper

NM_020957.4

p.G325R

c.973G>A

1 paper

NM_020957.4

p.L334_L335del1

c.1002_1004delCCT

1 paper

NM_020957.4

p.E316fs

c.946_947fs

1 paper

NM_020957.4

p.L335del1

c.1003_1004delCTG

1 paper

NM_020957.4

p.V340M

c.1018G>A

2 papers

NM_020957.4

p.D342H

c.1024G>C

1 paper

NM_020957.4

p.N343D

c.1027A>G

3 papers

NM_020957.4

p.V347L

c.1039G>C

3 papers

NM_020957.4

p.V347L

c.1039G>T

1 paper

NM_020957.4

p.F282V

c.844T>G

1 paper

NM_020957.4

p.I277M

c.831A>G

1 paper

NM_020957.4

p.S375S

c.1125C>T