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

2 papers

NM_000314.8

p.V191L

c.571G>T

Surrounding Variants

1 paper

NM_000314.8

p.V191M

c.571G>A

1 paper

NM_000314.8

p.V191L

c.571G>C

4 papers

NM_000314.8

p.V191fs

c.571_572fs

1 paper

NM_000314.8

p.P190P

c.570A>C

1 paper

NM_000314.8

p.V191del1

c.571_573delGTG

1 paper

NM_000314.8

p.V191_F195delFs

c.573_583del11

3 papers

NM_000314.8

p.V191A

c.572T>C

1 paper

NM_000314.8

p.V191G

c.572T>G

1 paper

NM_000314.8

p.A192delFs

c.574delG

1 paper

NM_000314.8

p.P190insFs

c.569_570ins13

7 papers

NM_000314.8

p.P190L

c.569C>T

1 paper

NM_000314.8

p.P190T

c.568C>A