Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.M81fs

PHF6

545 papers

RefSeq Summary

This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, th...

Pfam Domains

zf-HC5HC2Haa 42–132UCSCPHD-like zinc-binding domain
zf-HC5HC2Haa 239–330UCSCPHD-like zinc-binding domain

Gene Aliases

HGNC Name

PHD finger protein 6

HGNC Previous Symbols

BFLS; BORJ

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001015877.2
p.M81fs
c.241_242fs
Surrounding Variants
1 paper
NM_001015877.2
p.L80_M81Splc
c.241-1G>A
1 paper
NM_001015877.2
p.C82delFs
c.245delG
1 paper
NM_001015877.2
p.C82fs
c.244_245fs
1 paper
NM_001015877.2
p.C82Y
c.245G>A
1 paper
NM_001015877.2
p.S83Y
c.248C>A
1 paper
NM_001015877.2
p.L84fs
c.250_251fs
1 paper
NM_001015877.2
p.L84W
c.251T>G
1 paper
NM_001015877.2
p.H86delFs
c.256delC
3 papers
NM_001015877.2
p.C85*
c.255C>A
1 paper
NM_001015877.2
p.H86fs
c.256_257fs
1 paper
NM_001015877.2
p.H86R
c.257A>G
1 paper
NM_001015877.2
p.C87*
c.261T>A
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