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.S740I

c.2219G>T

Surrounding Variants

1 paper

NM_018925.3

p.G742E

c.2225G>A

1 paper

NM_018925.3

p.P737H

c.2210C>A

1 paper

NM_018925.3

p.P736L

c.2207C>T

1 paper

NM_018925.3

p.C751R

c.2251T>C

1 paper

NM_018925.3

p.V707I

c.2119G>A

1 paper

NM_018925.3

p.D774N

c.2320G>A

1 paper

NM_018925.3

p.S793L

c.2378C>T

1 paper

NM_018925.3

p.R674H

c.2021G>A

2 papers

NM_018925.3

p.E609K

c.1825G>A

1 paper

NM_018925.3

p.L605L

c.1815G>T

1 paper

NM_018925.3

p.N597N

c.1791C>T

1 paper

NM_018925.3

p.S594L

c.1781C>T