Varaico: Literature-Extracted Genetic Variants

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

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

2 papers

NM_000314.8

p.I28_Y29delFs

c.84_87del4

Surrounding Variants

1 paper

NM_000314.8

p.Y27insFs

c.80_81insT

1 paper

NM_000314.8

p.Y27_I28insFs

c.81_82insCT

3 papers

NM_000314.8

p.Y27S

c.80A>C

17 papers

NM_000314.8

p.Y27C

c.80A>G

2 papers

NM_000314.8

p.Y27fs

c.79_80fs

1 paper

NM_000314.8

p.I28del1

c.82_83delATT

4 papers

NM_000314.8

p.Y27Splc

c.80-1G>A

7 papers

NM_000314.8

p.Y27Splc

c.80-1G>C

1 paper

NM_000314.8

p.Y27Splc

c.80-1G>T

1 paper

NM_000314.8

p.Y27*

c.81T>A

3 papers

NM_000314.8

p.Y27Y

c.81T>C

3 papers

NM_000314.8

p.Y27*

c.81T>G