Varaico: Literature-Extracted Genetic Variants

PCDHB9

43 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 9

HGNC Alias Symbols

PCDH-BETA9; PCDH3H

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_019119.5

p.V660L

c.1978G>T

Surrounding Variants

1 paper

NM_019119.5

p.V660L

c.1978G>C

1 paper

NM_019119.5

p.V663L

c.1987G>C

1 paper

NM_019119.5

p.V663L

c.1987G>T

1 paper

NM_019119.5

p.S653L

c.1958C>T

1 paper

NM_019119.5

p.A635A

c.1905G>A

1 paper

NM_019119.5

p.P612A

c.1834C>G

1 paper

NM_019119.5

p.E611K

c.1831G>A

1 paper

NM_019119.5

p.A579E

c.1736C>A

1 paper

NM_019119.5

p.D556D

c.1668C>T

1 paper

NM_019119.5

p.P775S

c.2323C>T

1 paper

NM_019119.5

p.S543T

c.1628G>C

1 paper

NM_019119.5

p.E785K

c.2353G>A