Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.C283*

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.C283*
c.849C>A
Surrounding Variants
1 paper
NM_001015877.2
p.C283C
c.849C>T
2 papers
NM_001015877.2
p.C283Y
c.848G>A
1 paper
NM_001015877.2
p.C283S
c.848G>C
1 paper
NM_001015877.2
p.C283delins
c.848_849delinsAG
4 papers
NM_001015877.2
p.C283R
c.847T>C
2 papers
NM_001015877.2
p.C283fs
c.847_848fs
1 paper
NM_001015877.2
p.Q285K
c.853C>A
1 paper
NM_001015877.2
p.Q285*
c.853C>T
2 papers
NM_001015877.2
p.L282P
c.845T>C
1 paper
NM_001015877.2
p.L282fs
c.844_845fs
1 paper
NM_001015877.2
p.C280*
c.840T>A
1 paper
NM_001015877.2
p.C280W
c.840T>G
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