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

8 papers

NM_000314.8

p.H118Y

c.352C>T

Surrounding Variants

2 papers

NM_000314.8

p.H118insFs

c.353_354insA

3 papers

NM_000314.8

p.H118fs

c.352_353fs

1 paper

NM_000314.8

p.H118D

c.352C>G

3 papers

NM_000314.8

p.H118fs

c.352_353fs

1 paper

NM_000314.8

p.H118_V119insFs

c.354_355insTT

17 papers

NM_000314.8

p.H118P

c.353A>C

6 papers

NM_000314.8

p.H118R

c.353A>G

4 papers

NM_000314.8

p.H118L

c.353A>T

1 paper

NM_000314.8

p.H118insFs

c.352dupC

2 papers

NM_000314.8

p.H118delFs

c.352delC

3 papers

NM_000314.8

p.N117T

c.350A>C

18 papers

NM_000314.8

p.N117S

c.350A>G