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

5 papers

NM_000314.8

p.M198I

c.594G>A

Surrounding Variants

4 papers

NM_000314.8

p.M198I

c.594G>C

1 paper

NM_000314.8

p.E201insFs

c.601_602ins10

4 papers

NM_000314.8

p.M198I

c.594G>T

2 papers

NM_000314.8

p.M199fs

c.595_596fs

2 papers

NM_000314.8

p.M199V

c.595A>G

1 paper

NM_000314.8

p.M199L

c.595A>T

1 paper

NM_000314.8

p.M199_F200del1

c.597_599delGTT

13 papers

NM_000314.8

p.M198K

c.593T>A

5 papers

NM_000314.8

p.M198T

c.593T>C

4 papers

NM_000314.8

p.M198R

c.593T>G

2 papers

NM_000314.8

p.M198fs

c.592_593fs

1 paper

NM_000314.8

p.M198V

c.592A>G