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.K332fs

c.994_995fs

Surrounding Variants

1 paper

NM_000314.8

p.K332_A333insT

c.994_998ins3

1 paper

NM_000314.8

p.K332E

c.994A>G

3 papers

NM_000314.8

p.K332*

c.994A>T

1 paper

NM_000314.8

p.K332fs

c.994_995fs

1 paper

NM_000314.8

p.K332R

c.995A>G

1 paper

NM_000314.8

p.K332insFs

c.996dupA

1 paper

NM_000314.8

p.K332_A333insFs

c.996_997ins4

12 papers

NM_000314.8

p.D331G

c.992A>G

2 papers

NM_000314.8

p.D331delFs

c.993delC

2 papers

NM_000314.8

p.D331N

c.991G>A

5 papers

NM_000314.8

p.D331H

c.991G>C

1 paper

NM_000314.8

p.A333_N334insFs

c.998_1001dup4