Varaico: Literature-Extracted Genetic Variants

Gene:PHTF1
Variant:p.R284Q

PHTF1

51 papers

Pfam Domains

PHTF1-2_Naa 3–151UCSCHomeodomain containing protein PHTF1/2, N-terminal

Gene Aliases

HGNC Name

putative homeodomain transcription factor 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001323043.2
p.R284Q
c.851G>A
Surrounding Variants
1 paper
NM_001323043.2
p.R332Q
c.995G>A
1 paper
NM_001323043.2
p.R260C
c.778C>T
3 papers
NM_001323043.2
p.Q237K
c.709C>A
1 paper
NM_001323043.2
p.K218R
c.653A>G
1 paper
NM_001323043.2
p.K210E
c.628A>G
1 paper
NM_001323043.2
p.R208Splc
c.624-2A>G
1 paper
NM_001323043.2
p.D375H
c.1123G>C
1 paper
NM_001323043.2
p.G389S
c.1165G>A
1 paper
NM_001323043.2
p.S394P
c.1180T>C
1 paper
NM_001323043.2
p.T407T
c.1221C>A
1 paper
NM_001323043.2
p.S410P
c.1228T>C
1 paper
NM_001323043.2
p.Q423_N424Splc
c.1269+5G>A
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