Varaico: Literature-Extracted Genetic Variants

Gene:PCDHB10
Variant:p.E684Q

PCDHB10

89 papers

RefSeq Summary

This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization simil...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like
Cadherinaa 138–233UCSCCadherin domain
Cadherinaa 247–338UCSCCadherin domain
Cadherinaa 352–442UCSCCadherin domain
Cadherinaa 456–552UCSCCadherin domain
Cadherinaa 575–663UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin beta 10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018930.4
p.E684Q
c.2050G>C
Surrounding Variants
1 paper
NM_018930.4
p.A695G
c.2084C>G
1 paper
NM_018930.4
p.L671L
c.2011C>T
1 paper
NM_018930.4
p.L705F
c.2113C>T
3 papers
NM_018930.4
p.L660V
c.1978T>G
1 paper
NM_018930.4
p.L709L
c.2127G>C
1 paper
NM_018930.4
p.V713L
c.2137G>C
1 paper
NM_018930.4
p.V713L
c.2137G>T
1 paper
NM_018930.4
p.G648fs
c.1942_1943fs
1 paper
NM_018930.4
p.G648delFs
c.1942delG
1 paper
NM_018930.4
p.L640L
c.1920C>G
1 paper
NM_018930.4
p.D634N
c.1900G>A
1 paper
NM_018930.4
p.V739fs
c.2215_2216fs
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