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.P449S

c.1345C>T

Surrounding Variants

1 paper

NM_018934.4

p.P449T

c.1345C>A

1 paper

NM_018934.4

p.A448T

c.1342G>A

1 paper

NM_018934.4

p.F459F

c.1377C>T

1 paper

NM_018934.4

p.R461S

c.1381C>A

1 paper

NM_018934.4

p.R461C

c.1381C>T

1 paper

NM_018934.4

p.I470I

c.1410C>T

1 paper

NM_018934.4

p.V423I

c.1267G>A

1 paper

NM_018934.4

p.Y417_T424del8

c.1249_1271del24

2 papers

NM_018934.4

p.A484T

c.1450G>A

1 paper

NM_018934.4

p.R496P

c.1487G>C

1 paper

NM_018934.4

p.N399K

c.1197C>A

1 paper

NM_018934.4

p.N399K

c.1197C>G