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

12 papers

NM_000314.8

p.P339S

c.1015C>T

Surrounding Variants

4 papers

NM_000314.8

p.P339fs

c.1015_1016fs

1 paper

NM_000314.8

p.P339_N340insC

c.1015_1019ins3

2 papers

NM_000314.8

p.P339A

c.1015C>G

2 papers

NM_000314.8

p.P339insFs

c.1017dupA

7 papers

NM_000314.8

p.P339L

c.1016C>T

5 papers

NM_000314.8

p.N340delFs

c.1019delA

1 paper

NM_000314.8

p.P339_N340delFs

c.1017_1018delAA

1 paper

NM_000314.8

p.P339delFs

c.1016delC

1 paper

NM_000314.8

p.N340del1

c.1018_1020delAAT

3 papers

NM_000314.8

p.S338Y

c.1013C>A

1 paper

NM_000314.8

p.S338C

c.1013C>G

4 papers

NM_000314.8

p.N340fs

c.1018_1019fs