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

7 papers

NM_000314.8

p.K183N

c.549G>T

Surrounding Variants

1 paper

NM_000314.8

p.K183K

c.549G>A

7 papers

NM_000314.8

p.K183N

c.549G>C

2 papers

NM_000314.8

p.K183_N184insFs

c.549_550insA

1 paper

NM_000314.8

p.N184delFs

c.551delA

1 paper

NM_000314.8

p.N184_H185del2

c.550_554del6

1 paper

NM_000314.8

p.K183insFs

c.549dupG

7 papers

NM_000314.8

p.N184fs

c.550_551fs

2 papers

NM_000314.8

p.K183R

c.548A>G

1 paper

NM_000314.8

p.N184Y

c.550A>T

14 papers

NM_000314.8

p.N184fs

c.550_551fs

NM_001304717.5

p.N357fs

c.1069_1070fs

1 paper

NM_000314.8

p.H185del1

c.553_554delCAT

1 paper

NM_000314.8

p.K183delFs

c.549delG