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

10 papers

NM_000314.8

p.P244fs

c.730_731fs

Surrounding Variants

1 paper

NM_000314.8

p.P244T

c.730C>A

4 papers

NM_000314.8

p.P244fs

c.730_731fs

1 paper

NM_000314.8

p.P244_Q245insSAA

c.730_734ins9

9 papers

NM_000314.8

p.P244S

c.730C>T

3 papers

NM_000314.8

p.P244_V249delFs

c.731_747del17

4 papers

NM_000314.8

p.F243L

c.729C>A

4 papers

NM_000314.8

p.F243L

c.729C>G

2 papers

NM_000314.8

p.P244R

c.731C>G

1 paper

NM_000314.8

p.P244_L247delFs

c.730_740del11

1 paper

NM_000314.8

p.Q245_L247Fs

c.733_741delinsAFs

6 papers

NM_000314.8

p.F243S

c.728T>C

1 paper

NM_000314.8

p.P244P

c.732T>C