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.Q525R

c.1574A>G

Surrounding Variants

1 paper

NM_020957.4

p.Q525*

c.1573C>T

2 papers

NM_020957.4

p.G532S

c.1594G>A

1 paper

NM_020957.4

p.F514F

c.1542C>T

1 paper

NM_020957.4

p.S538insFs

c.1613dupC

1 paper

NM_020957.4

p.S538fs

c.1612_1613fs

2 papers

NM_020957.4

p.A508T

c.1522G>A

1 paper

NM_020957.4

p.A508delins

c.1522_1524delinsACA

2 papers

NM_020957.4

p.L498L

c.1494G>T

1 paper

NM_020957.4

p.H497Q

c.1491C>A

1 paper

NM_020957.4

p.H497Q

c.1491C>G

1 paper

NM_020957.4

p.T487P

c.1459A>C

1 paper

NM_020957.4

p.Q566R

c.1697A>G