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

3 papers

NM_000314.8

p.P169T

c.505C>A

Surrounding Variants

2 papers

NM_000314.8

p.P169fs

c.505_506fs

1 paper

NM_000314.8

p.P169A

c.505C>G

5 papers

NM_000314.8

p.P169S

c.505C>T

1 paper

NM_000314.8

p.P169fs

c.505_506fs

8 papers

NM_000314.8

p.P169H

c.506C>A

1 paper

NM_000314.8

p.P169ins1

c.506_507insAAT

1 paper

NM_000314.8

p.S170_Q171insFs

c.510_513dup4

3 papers

NM_000314.8

p.P169R

c.506C>G

2 papers

NM_000314.8

p.P169L

c.506C>T

1 paper

NM_000314.8

p.P169_S170delFs

c.507_508delCA

2 papers

NM_000314.8

p.S170_Q171delFs

c.510_513del4

1 paper

NM_000314.8

p.P169insFs

c.507dupC