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

50 papers

NM_000314.8

p.G36R

c.106G>C

Surrounding Variants

51 papers

NM_000314.8

p.G36R

c.106G>A

1 paper

NM_000314.8

p.G36fs

c.106_107fs

10 papers

NM_000314.8

p.G36*

c.106G>T

4 papers

NM_000314.8

p.G36fs

c.106_107fs

27 papers

NM_000314.8

p.G36E

c.107G>A

15 papers

NM_000314.8

p.M35I

c.105G>A

14 papers

NM_000314.8

p.M35I

c.105G>C

2 papers

NM_000314.8

p.G36A

c.107G>C

14 papers

NM_000314.8

p.M35I

c.105G>T

13 papers

NM_000314.8

p.G36V

c.107G>T

1 paper

NM_000314.8

p.M35_G36delins

c.105_106delinsAC

2 papers

NM_000314.8

p.G36_F37del2

c.106_110del6