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.I400T

c.1199T>C

Surrounding Variants

1 paper

NM_000314.8

p.I400fs

c.1198_1199fs

3 papers

NM_000314.8

p.I400V

c.1198A>G

3 papers

NM_000314.8

p.Q399H

c.1197A>C

5 papers

NM_000314.8

p.T401A

c.1201A>G

1 paper

NM_000314.8

p.Q399Q

c.1197A>G

4 papers

NM_000314.8

p.Q399H

c.1197A>T

1 paper

NM_000314.8

p.Q399P

c.1196A>C

2 papers

NM_000314.8

p.Q399R

c.1196A>G

1 paper

NM_000314.8

p.T401K

c.1202C>A

1 paper

NM_000314.8

p.T401R

c.1202C>G

9 papers

NM_000314.8

p.T401I

c.1202C>T

2 papers

NM_000314.8

p.K402_*404del3

c.1204_1211del9