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

2 papers

NM_020957.4

p.Q638H

c.1914G>C

Surrounding Variants

2 papers

NM_020957.4

p.Q638H

c.1914G>T

1 paper

NM_020957.4

p.A635T

c.1903G>A

1 paper

NM_020957.4

p.R633L

c.1898G>T

1 paper

NM_020957.4

p.R652C

c.1954C>T

1 paper

NM_020957.4

p.S653L

c.1958C>T

1 paper

NM_020957.4

p.G665S

c.1993G>A

1 paper

NM_020957.4

p.E675D

c.2025G>C

1 paper

NM_020957.4

p.E675D

c.2025G>T

1 paper

NM_020957.4

p.A677V

c.2030C>T

1 paper

NM_020957.4

p.S596*

c.1787C>A

1 paper

NM_020957.4

p.A693V

c.2078C>T

1 paper

NM_020957.4

p.L694L

c.2080T>C