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

1 paper

NM_000314.8

p.A333fs

c.997_998fs

Surrounding Variants

1 paper

NM_000314.8

p.A333_N334insFs

c.998_1001dup4

1 paper

NM_000314.8

p.A333fs

c.997_998fs

3 papers

NM_000314.8

p.A333S

c.997G>T

1 paper

NM_000314.8

p.A333delFs

c.999delC

2 papers

NM_000314.8

p.A333V

c.998C>T

1 paper

NM_000314.8

p.K332R

c.995A>G

3 papers

NM_000314.8

p.N334fs

c.1000_1001fs

2 papers

NM_000314.8

p.K332fs

c.994_995fs

1 paper

NM_000314.8

p.K332_A333insT

c.994_998ins3

1 paper

NM_000314.8

p.N334H

c.1000A>C

1 paper

NM_000314.8

p.K332E

c.994A>G

1 paper

NM_000314.8

p.N334D

c.1000A>G