Varaico: Literature-Extracted Genetic Variants

Gene:PHF21A
Variant:p.P217delFs

PHF21A

80 papers

RefSeq Summary

The PHF21A gene encodes BHC80, a component of a BRAF35 (MIM 605535)/histone deacetylase (HDAC; see MIM 601241) complex (BHC) that mediates repression of neuron-specific genes through the cis-regulator...

Pfam Domains

PHDaa 491–532UCSCPHD-finger

Gene Aliases

HGNC Name

PHD finger protein 21A

HGNC Alias Symbols

BHC80; KIAA1696; BM-006

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001352027.3
p.P217delFs
c.649_650delGG
Surrounding Variants
1 paper
NM_001352027.3
p.Q218L
c.653A>T
2 papers
NM_001101802.3
p.Q217delFs
c.649_650delTG
4 papers
NM_001101802.3
p.I219_P220insFs
c.657_658insAA
3 papers
NM_001101802.3
p.P220fs
c.658_659fs
1 paper
NM_001352027.3
p.P210S
c.628C>T
1 paper
NM_001101802.3
p.L204_V205Splc
c.613-2A>G
1 paper
NM_001352027.3
p.L204_Q205Splc
c.613-2A>G
1 paper
NM_001352027.3
p.L232fs
c.694_695fs
1 paper
NM_001352027.3
p.L232_P233delFs
c.694_698del5
1 paper
NM_001352027.3
p.L204_Q205Splc
c.612+1G>A
1 paper
NM_001352027.3
p.T203S
c.607A>T
1 paper
NM_001352027.3
p.A167V
c.500C>T
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