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.V167A

c.500T>C

Surrounding Variants

1 paper

NM_020957.4

p.S176F

c.527C>T

1 paper

NM_020957.4

p.R179W

c.535C>T

1 paper

NM_020957.4

p.T150S

c.448A>T

1 paper

NM_020957.4

p.P147T

c.439C>A

1 paper

NM_020957.4

p.S146I

c.437G>T

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.K136N

c.408G>C

1 paper

NM_020957.4

p.K136N

c.408G>T

2 papers

NM_020957.4

p.R202Q

c.605G>A

1 paper

NM_020957.4

p.T213K

c.638C>A