Varaico: Literature-Extracted Genetic Variants

Gene:PTEN
Variant:p.F241L

PTEN

6,035 papers

RefSeq Summary

This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphat...

Pfam Domains

Tc-R-Paa 40–144UCSCPolymorphic toxin system, DSP-PTPase phosphatase
Tc-R-Paa 40–144UCSCPolymorphic toxin system, DSP-PTPase phosphatase
Tc-R-Paa 40–144UCSCPolymorphic toxin system, DSP-PTPase phosphatase
PTEN_C2aa 188–349UCSCC2 domain of PTEN tumour-suppressor protein
PTEN_C2aa 188–349UCSCC2 domain of PTEN tumour-suppressor protein

Gene Aliases

HGNC Name

phosphatase and tensin homolog

HGNC Previous Symbols

BZS; MHAM

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
16 papers
NM_000314.8
p.F241L
c.721T>C
Surrounding Variants
2 papers
NM_000314.8
p.F241I
c.721T>A
3 papers
NM_000314.8
p.F241V
c.721T>G
11 papers
NM_000314.8
p.F241fs
c.721_722fs
4 papers
NM_000314.8
p.F241fs
c.721_722fs
1 paper
NM_000314.8
p.E242_L247delFs
c.724_740del17
18 papers
NM_000314.8
p.Y240*
c.720C>A
1 paper
NM_000314.8
p.Y240_F241insFs
c.720_721insCA
10 papers
NM_000314.8
p.F241insFs
c.723dupT
18 papers
NM_000314.8
p.F241_E242insFs
c.723_724insTT
19 papers
NM_000314.8
p.Y240*
c.720C>G
3 papers
NM_000314.8
p.Y240Y
c.720C>T
3 papers
NM_000314.8
p.F241delFs
c.721delT
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