Varaico: Literature-Extracted Genetic Variants

Gene:PCDHGA10
Variant:p.Q533H

PCDHGA10

52 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 34–116UCSCCadherin-like
Cadherinaa 142–237UCSCCadherin domain
Cadherinaa 251–342UCSCCadherin domain
Cadherinaa 358–447UCSCCadherin domain
Cadherinaa 461–557UCSCCadherin domain
Cadherinaa 582–669UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 10

HGNC Alias Symbol

PCDH-GAMMA-A10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018913.3
p.Q533H
c.1599G>C
Surrounding Variants
1 paper
NM_018913.3
p.Q533H
c.1599G>T
1 paper
NM_018913.3
p.E527K
c.1579G>A
1 paper
NM_018913.3
p.V550M
c.1648G>A
1 paper
NM_018913.3
p.T499N
c.1496C>A
1 paper
NM_018913.3
p.T573T
c.1719A>G
1 paper
NM_018913.3
p.P483Q
c.1448C>A
1 paper
NM_018913.3
p.S585C
c.1754C>G
2 papers
NM_018913.3
p.G589S
c.1765G>A
1 paper
NM_018913.3
p.A622A
c.1866G>A
1 paper
NM_018913.3
p.A633A
c.1899G>A
1 paper
NM_018913.3
p.A633A
c.1899G>C
1 paper
NM_018913.3
p.A641V
c.1922C>T
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