Varaico: Literature-Extracted Genetic Variants

Gene:PHF21A
Variant:p.S668R

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_001101802.3
p.S668R
c.2004C>G
Surrounding Variants
1 paper
NM_001101802.3
p.S668R
c.2004C>A
1 paper
NM_001101802.3
p.S668R
c.2002A>C
1 paper
NM_001101802.3
p.S663Y
c.1988C>A
1 paper
NM_001101802.3
p.Q675fs
c.2023_2024fs
1 paper
NM_001101802.3
p.Q675R
c.2024A>G
4 papers
NM_001101802.3
p.Q675delFs
c.2024delT
1 paper
NM_001101802.3
p.E678A
c.2033A>C
4 papers
NM_001101802.3
p.T657_S658insAA
c.1969_1973ins6
1 paper
NM_001352027.3
p.A654T
c.1960G>A
5 papers
NM_001101802.3
p.P652delFs
c.1956delA
NM_001352027.3
p.P653delFs
c.1959delA
1 paper
NM_001352027.3
p.A654fs
c.1960_1961fs
2 papers
NM_001352027.3
p.P652insFs
c.1955dupC
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