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

1 paper

NM_000314.8

p.C218F

c.653G>T

Surrounding Variants

3 papers

NM_000314.8

p.C218Y

c.653G>A

6 papers

NM_000314.8

p.C218*

c.654C>A

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.Q219delFs

c.655_656delCA

1 paper

NM_000314.8

p.Q219_L220del2

c.655_659del6

2 papers

NM_000314.8

p.Q219_V222del4

c.655_665del12

1 paper

NM_000314.8

p.C218R

c.652T>C

3 papers

NM_000314.8

p.C218fs

c.652_653fs

2 papers

NM_000314.8

p.C218fs

c.652_653fs

1 paper

NM_000314.8

p.Q219fs

c.655_656fs

31 papers

NM_000314.8

p.Q219*

c.655C>T