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

1 paper

NM_000314.8

p.T232fs

c.694_695fs

Surrounding Variants

13 papers

NM_000314.8

p.T232fs

c.694_695fs

5 papers

NM_000314.8

p.T232P

c.694A>C

5 papers

NM_000314.8

p.T232A

c.694A>G

1 paper

NM_000314.8

p.T232S

c.694A>T

1 paper

NM_000314.8

p.T232_R234Fs

c.694_700delinsTCAGCTTACCCCACTCCTFs

5 papers

NM_000314.8

p.T232insFs

c.696dupA

1 paper

NM_000314.8

p.T232insFs

c.694_695insA

1 paper

NM_000314.8

p.P231_T232insFs

c.693_694insT

1 paper

NM_000314.8

p.T232R

c.695C>G

1 paper

NM_000314.8

p.P231P

c.693C>T

3 papers

NM_000314.8

p.T232delFs

c.696delA

2 papers

NM_000314.8

p.T232_R233del2

c.694_698del6