Varaico: Literature-Extracted Genetic Variants

Gene:PHF21A

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
1–12 of 115 variants
6 papers
NM_001101802.3
p.G429S
c.1285G>A
6 papers
NM_001101802.3
p.G429S
c.1285G>A
5 papers
NM_001101802.3
p.R580*
c.1738C>T
4 papers
NM_001101802.3
p.I219_P220insFs
c.657_658insAA
4 papers
NM_001101802.3
p.K391*
c.1171A>T
4 papers
NM_001101802.3
p.P407insFs
c.1220dupC
4 papers
NM_001101802.3
p.C491insFs
c.1471dupT
4 papers
NM_001352027.3
p.P652fs
c.1954_1955fs
4 papers
NM_001101802.3
p.P652delFs
c.1955delG
4 papers
NM_001101802.3
p.P652delFs
c.1956delA
4 papers
NM_001101802.3
p.T657_S658insAA
c.1969_1973ins6
4 papers
NM_001101802.3
p.Q675delFs
c.2024delT
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."