Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.M243I

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.M243I
c.729G>C
Surrounding Variants
1 paper
NM_001015877.2
p.M243I
c.729G>A
1 paper
NM_001015877.2
p.M243_L244ins4
c.729_730ins12
1 paper
NM_001015877.2
p.M243I
c.729G>T
1 paper
NM_001015877.2
p.M243R
c.728T>G
1 paper
NM_001015877.2
p.M243fs
c.727_728fs
1 paper
NM_001015877.2
p.M243ins2
c.727_728ins6
1 paper
NM_001015877.2
p.C242_M243ins6
c.726_727ins18
9 papers
NM_001015877.2
p.C242Y
c.725G>A
2 papers
NM_001015877.2
p.C242S
c.725G>C
1 paper
NM_001015877.2
p.C242F
c.725G>T
2 papers
NM_001015877.2
p.C242S
c.724T>A
1 paper
NM_001015877.2
p.C242R
c.724T>C
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