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.L48I

c.142C>A

Surrounding Variants

1 paper

NM_018934.4

p.L48L

c.142C>T

1 paper

NM_018934.4

p.A49V

c.146C>T

1 paper

NM_018934.4

p.N47_L48delFs

c.139_142del4

1 paper

NM_018934.4

p.R62C

c.184C>T

1 paper

NM_018934.4

p.V67A

c.200T>C

2 papers

NM_018934.4

p.L9V

c.25C>G

1 paper

NM_018934.4

p.G5E

c.14G>A

1 paper

NM_018934.4

p.D93N

c.277G>A

1 paper

NM_018934.4

p.D93E

c.279C>A

1 paper

NM_018934.4

p.D93E

c.279C>G

1 paper

NM_018934.4

p.D128N

c.382G>A

1 paper

NM_018934.4

p.H129L

c.386A>T