Varaico: Literature-Extracted Genetic Variants

PCDHB14

64 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 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–442UCSCCadherin domain

Cadherinaa 456–552UCSCCadherin domain

Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 14

HGNC Alias Symbol

PCDH-BETA14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018934.4

p.G532R

c.1594G>C

Surrounding Variants

1 paper

NM_018934.4

p.R530H

c.1589G>A

1 paper

NM_018934.4

p.R536H

c.1607G>A

1 paper

NM_018934.4

p.S542C

c.1624A>T

1 paper

NM_018934.4

p.E522Q

c.1564G>C

3 papers

NM_018934.4

p.R548R

c.1644C>A

1 paper

NM_018934.4

p.A515V

c.1544C>T

1 paper

NM_018934.4

p.H512Q

c.1536C>G

1 paper

NM_018934.4

p.D553A

c.1658A>C

1 paper

NM_018934.4

p.S558S

c.1674G>A

1 paper

NM_018934.4

p.A501T

c.1501G>A

1 paper

NM_018934.4

p.R496P

c.1487G>C

2 papers

NM_018934.4

p.A484T

c.1450G>A