Varaico: Literature-Extracted Genetic Variants

Gene:PHTF1
Variant:p.F546fs

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.F546fs
c.1636_1637fs
Surrounding Variants
1 paper
NM_001323043.2
p.F546insFs
c.1637dupT
1 paper
NM_001323043.2
p.M547fs
c.1639_1640fs
1 paper
NM_001323043.2
p.R498C
c.1492C>T
1 paper
NM_001323043.2
p.L493I
c.1477T>A
2 papers
NM_001323043.2
p.F492L
c.1476C>G
2 papers
NM_001323043.2
p.F492L
c.1476C>A
2 papers
NM_001323043.2
p.F492L
c.1474T>C
1 paper
NM_001323043.2
p.G480E
c.1439G>A
1 paper
NM_001323043.2
p.S436P
c.1306T>C
1 paper
NM_001323043.2
p.A571S
c.1711G>T
1 paper
NM_001323043.2
p.W593C
c.1779G>T
1 paper
NM_001323043.2
p.W593C
c.1779G>C
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