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

94 papers

NM_000314.8

p.K267fs

c.799_800fs

Surrounding Variants

3 papers

NM_000314.8

p.K267Q

c.799A>C

1 paper

NM_000314.8

p.K267E

c.799A>G

1 paper

NM_000314.8

p.K267*

c.799A>T

44 papers

NM_000314.8

p.K267fs

c.799_800fs

4 papers

NM_000314.8

p.K266N

c.798A>C

7 papers

NM_000314.8

p.K267R

c.800A>G

4 papers

NM_000314.8

p.K266N

c.798A>T

2 papers

NM_000314.8

p.K267M

c.800A>T

1 paper

NM_000314.8

p.K267delFs

c.801delG

13 papers

NM_000314.8

p.K266R

c.797A>G

1 paper

NM_000314.8

p.K267K

c.801G>A

5 papers

NM_000314.8

p.K267N

c.801G>C