Varaico: Literature-Extracted Genetic Variants

Gene:PHF6
Variant:p.G93S

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.G93S
c.277G>A
Surrounding Variants
2 papers
NM_001015877.2
p.G93fs
c.277_278fs
1 paper
NM_001015877.2
p.G93_C94insG
c.277_281ins3
2 papers
NM_001015877.2
p.G93C
c.277G>T
1 paper
NM_001015877.2
p.G93delFs
c.279delT
1 paper
NM_001015877.2
p.G93_K97delFs
c.279_291del13
1 paper
NM_001015877.2
p.C94_D95insCTA
c.280_284ins9
2 papers
NM_001015877.2
p.A90fs
c.268_269fs
2 papers
NM_001015877.2
p.V96fs
c.286_287fs
1 paper
NM_001015877.2
p.A90_T91ins4
c.268_272ins12
1 paper
NM_001015877.2
p.V96delFs
c.287delT
1 paper
NM_001015877.2
p.G89_A90insFs
c.267_268ins8
1 paper
NM_001015877.2
p.G89E
c.266G>A
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