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

6 papers

NM_000314.8

p.E150G

c.449A>G

Surrounding Variants

1 paper

NM_000314.8

p.E150_D153insFs

c.450_457dup8

1 paper

NM_000314.8

p.E150V

c.449A>T

4 papers

NM_000314.8

p.E150K

c.448G>A

4 papers

NM_000314.8

p.E150Q

c.448G>C

4 papers

NM_000314.8

p.E150D

c.450G>C

4 papers

NM_000314.8

p.E150fs

c.448_449fs

1 paper

NM_000314.8

p.E150Fs

c.449delinsTAFs

11 papers

NM_000314.8

p.E150*

c.448G>T

3 papers

NM_000314.8

p.E150D

c.450G>T

1 paper

NM_000314.8

p.E150fs

c.448_449fs

1 paper

NM_000314.8

p.Q149_E150insFs

c.447_448insC

1 paper

NM_000314.8

p.Q149Q

c.447A>G