Varaico: Literature-Extracted Genetic Variants

Gene:PHF21A
Variant:p.G548Fs

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.G548Fs
c.1642_1643delinsCFs
Surrounding Variants
1 paper
NM_001352027.3
p.G548fs
c.1642_1643fs
1 paper
NM_001352027.3
p.A561E
c.1682C>A
1 paper
NM_016621.5
p.A515delFs
c.1545delT
1 paper
NM_001352027.3
p.E565K
c.1693G>A
1 paper
NM_001352027.3
p.Q568*
c.1702C>T
1 paper
NM_001352027.3
p.Q568delFs
c.1703delT
2 papers
NM_001352027.3
p.K569fs
c.1705_1706fs
NM_001101802.3
p.K568fs
c.1702_1703fs
1 paper
NM_001352027.3
p.K569Q
c.1705A>C
1 paper
NM_001352027.3
p.Q568_K569delFs
c.1704_1705delTC
1 paper
NM_001101802.3
p.K568delFs
c.1703delT
5 papers
NM_001101802.3
p.R580*
c.1738C>T
1 paper
NM_001101802.3
p.L515delFs
c.1545delT
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