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

6 papers

NM_000314.8

p.K197delFs

c.589delA

Surrounding Variants

1 paper

NM_000314.8

p.K197_M198del2

c.589_593del6

1 paper

NM_000314.8

p.H196insFs

c.588dupC

3 papers

NM_000314.8

p.K197fs

c.589_590fs

1 paper

NM_000314.8

p.H196P

c.587A>C

1 paper

NM_000314.8

p.H196R

c.587A>G

4 papers

NM_000314.8

p.K197*

c.589A>T

2 papers

NM_000314.8

p.K197fs

c.589_590fs

2 papers

NM_000314.8

p.K197R

c.590A>G

19 papers

NM_000314.8

p.M199del1

c.595_596delATG

2 papers

NM_000314.8

p.M198_E201delFs

c.592_601del10

1 paper

NM_000314.8

p.H196N

c.586C>A

7 papers

NM_000314.8

p.H196fs

c.586_587fs