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.Q399H

c.1197A>C

Surrounding Variants

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.I400fs

c.1198_1199fs

1 paper

NM_000314.8

p.Q399P

c.1196A>C

3 papers

NM_000314.8

p.I400V

c.1198A>G

2 papers

NM_000314.8

p.Q399R

c.1196A>G

1 paper

NM_000314.8

p.Q399E

c.1195C>G

3 papers

NM_000314.8

p.Q399*

c.1195C>T

1 paper

NM_000314.8

p.I400_K402del3

c.1198_1205del9

2 papers

NM_000314.8

p.I400T

c.1199T>C

1 paper

NM_000314.8

p.T398T

c.1194A>C

1 paper

NM_000314.8

p.T398T

c.1194A>T