Varaico: Literature-Extracted Genetic Variants

Gene:PCDHGA10
Variant:p.N242T

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.N242T
c.725A>C
Surrounding Variants
1 paper
NM_018913.3
p.A243V
c.728C>T
1 paper
NM_018913.3
p.R252_V253delFs
c.755_758del4
1 paper
NM_018913.3
p.H212R
c.635A>G
3 papers
NM_018913.3
p.E275K
c.823G>A
1 paper
NM_018913.3
p.E209Q
c.625G>C
1 paper
NM_018913.3
p.K287N
c.861A>C
1 paper
NM_018913.3
p.K287N
c.861A>T
1 paper
NM_018913.3
p.P196L
c.587C>T
3 papers
NM_018913.3
p.K194*
c.580A>T
1 paper
NM_018913.3
p.S173R
c.519C>A
1 paper
NM_018913.3
p.S173R
c.519C>G
1 paper
NM_018913.3
p.S173R
c.517A>C
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