Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.S204fs

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.S204fs
c.610_611fs
Surrounding Variants
1 paper
NM_001015877.2
p.S204fs
c.610_611fs
2 papers
NM_001015877.2
p.S204N
c.611G>A
1 paper
NM_001015877.2
p.S204I
c.611G>T
1 paper
NM_001015877.2
p.R202S
c.606A>T
1 paper
NM_001015877.2
p.P205R
c.614C>G
1 paper
NM_001015877.2
p.S206_D207insFs
c.618_619ins4
1 paper
NM_001015877.2
p.D207Y
c.619G>T
1 paper
NM_001015877.2
p.H201delFs
c.601delC
5 papers
NM_001015877.2
p.P200fs
c.598_599fs
1 paper
NM_001015877.2
p.R209delFs
c.625delA
1 paper
NM_001015877.2
p.R209fs
c.625_626fs
1 paper
NM_001015877.2
p.S199fs
c.595_596fs
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