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.H129L

c.386A>T

Surrounding Variants

1 paper

NM_018934.4

p.D128N

c.382G>A

1 paper

NM_018934.4

p.D135N

c.403G>A

1 paper

NM_018934.4

p.D135D

c.405C>T

1 paper

NM_018934.4

p.L139_I142del4

c.415_425del12

1 paper

NM_018934.4

p.L139_I142delFs

c.417_424del8

1 paper

NM_018934.4

p.M154fs

c.460_461fs

1 paper

NM_018934.4

p.M154delFs

c.462delG

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.D93N

c.277G>A

1 paper

NM_018934.4

p.S173I

c.518G>T

1 paper

NM_018934.4

p.V67A

c.200T>C