Varaico: Literature-Extracted Genetic Variants

Gene:PCDHA6
Variant:p.N604S

PCDHA6

114 papers

RefSeq Summary

This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like
Cadherinaa 139–233UCSCCadherin domain
Cadherinaa 247–341UCSCCadherin domain
Cadherinaa 355–446UCSCCadherin domain
Cadherinaa 460–556UCSCCadherin domain
Cadherinaa 460–556UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin alpha 6

HGNC Previous Symbol

CNRS2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018909.4
p.N604S
c.1811A>G
Surrounding Variants
1 paper
NM_018909.4
p.G602C
c.1804G>T
1 paper
NM_018909.4
p.S601L
c.1802C>T
1 paper
NM_018909.4
p.S608S
c.1824G>A
1 paper
NM_018909.4
p.A599V
c.1796C>T
1 paper
NM_018909.4
p.D598E
c.1794C>A
1 paper
NM_018909.4
p.D598E
c.1794C>G
1 paper
NM_018909.4
p.V597V
c.1791T>G
1 paper
NM_018909.4
p.Q612P
c.1835A>C
1 paper
NM_018909.4
p.A596E
c.1787C>A
1 paper
NM_018909.4
p.P613L
c.1838C>T
1 paper
NM_018909.4
p.A592V
c.1775C>T
1 paper
NM_018909.4
p.V591L
c.1771G>C
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