Varaico: Literature-Extracted Genetic Variants

Gene:PHF21A
Variant:p.E408fs

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
2 papers
NM_001101802.3
p.E408fs
c.1222_1223fs
Surrounding Variants
4 papers
NM_001101802.3
p.P407insFs
c.1220dupC
1 paper
NM_001352027.3
p.P399L
c.1196C>T
4 papers
NM_001101802.3
p.K391*
c.1171A>T
1 paper
NM_001352027.3
p.R391Q
c.1172G>A
1 paper
NM_001352027.3
p.R391*
c.1171C>T
1 paper
NM_001352027.3
p.S386fs
c.1156_1157fs
1 paper
NM_001352027.3
p.S386N
c.1157G>A
3 papers
NM_001101802.3
p.S385delFs
c.1153delT
NM_001352027.3
p.S386delFs
c.1156delT
1 paper
NM_001352027.3
p.T416T
c.1248A>G
1 paper
NM_001101802.3
p.R428R
c.1284A>G
7 papers
NM_001101802.3
p.G429S
c.1285G>A
NM_001352027.3
p.G430S
c.1288G>A
1 paper
NM_001352027.3
p.E383Splc
c.1147+2T>G
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