Varaico: Literature-Extracted Genetic Variants

PCDHGB5

35 papers

RefSeq Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggestin...

Pfam Domains

Cadherin_2aa 32–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–334UCSCCadherin domain

Cadherinaa 351–439UCSCCadherin domain

Cadherinaa 453–549UCSCCadherin domain

Cadherinaa 574–659UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily B, 5

HGNC Alias Symbol

PCDH-GAMMA-B5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018925.3

p.V441I

c.1321G>A

Surrounding Variants

1 paper

NM_018925.3

p.H437L

c.1310A>T

1 paper

NM_018925.3

p.I418T

c.1253T>C

1 paper

NM_018925.3

p.D407Y

c.1219G>T

1 paper

NM_018925.3

p.S394Fs

c.1182delinsCAFs

1 paper

NM_018925.3

p.S502Y

c.1505C>A

1 paper

NM_018925.3

p.A505T

c.1513G>A

1 paper

NM_018925.3

p.R514H

c.1541G>A

1 paper

NM_018925.3

p.H346_S347del1

c.1038_1040delTTC

1 paper

NM_018925.3

p.V542M

c.1624G>A

1 paper

NM_018925.3

p.A562S

c.1684G>T

1 paper

NM_018925.3

p.E307V

c.920A>T

1 paper

NM_018925.3

p.G295R

c.883G>A