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.Q750P

c.2249A>C

Surrounding Variants

1 paper

NM_018934.4

p.T761I

c.2282C>T

1 paper

NM_018934.4

p.E729K

c.2185G>A

1 paper

NM_018934.4

p.S721P

c.2161T>C

1 paper

NM_018934.4

p.R790Q

c.2369G>A

1 paper

NM_018934.4

p.Q798Q

c.2394A>G

1 paper

NM_018934.4

p.V688I

c.2062G>A

1 paper

NM_018934.4

p.Y670S

c.2009A>C

1 paper

NM_018934.4

p.P651P

c.1953T>G

1 paper

NM_018934.4

p.D646N

c.1936G>A

1 paper

NM_018934.4

p.H638Q

c.1914C>A

1 paper

NM_018934.4

p.H638Q

c.1914C>G

5 papers

NM_018934.4

p.G594S

c.1780G>A