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

54 papers

NM_000314.8

p.G165R

c.493G>C

Surrounding Variants

60 papers

NM_000314.8

p.G165R

c.493G>A

9 papers

NM_000314.8

p.G165fs

c.493_494fs

18 papers

NM_000314.8

p.G165*

c.493G>T

1 paper

NM_000314.8

p.G165_V166delFs

c.495_496delAG

7 papers

NM_000314.8

p.G165fs

c.493_494fs

55 papers

NM_000314.8

p.G165E

c.494G>A

12 papers

NM_000314.8

p.K164_G165Splc

c.493-1G>A

5 papers

NM_000314.8

p.K164_G165Splc

c.493-1G>C

22 papers

NM_000314.8

p.G165V

c.494G>T

4 papers

NM_000314.8

p.K164_G165Splc

c.493-1G>T

1 paper

NM_000314.8

p.V166_T167delFs

c.496_499del4

1 paper

NM_000314.8

p.G165_R172delFs

c.493_514del22