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

3 papers

NM_000314.8

p.Q219P

c.656A>C

Surrounding Variants

2 papers

NM_000314.8

p.Q219R

c.656A>G

1 paper

NM_000314.8

p.Q219L

c.656A>T

1 paper

NM_000314.8

p.Q219fs

c.655_656fs

31 papers

NM_000314.8

p.Q219*

c.655C>T

1 paper

NM_000314.8

p.Q219_S229Fs

c.657_685delinsTTTATCGTCFs

6 papers

NM_000314.8

p.C218*

c.654C>A

1 paper

NM_000314.8

p.L220insFs

c.659dupT

5 papers

NM_000314.8

p.L220V

c.658C>G

2 papers

NM_000314.8

p.C218W

c.654C>G

1 paper

NM_000314.8

p.C218C

c.654C>T

1 paper

NM_000314.8

p.L220L

c.658C>T

1 paper

NM_000314.8

p.Q219delFs

c.655_656delCA