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.L325fs

c.973_974fs

Surrounding Variants

2 papers

NM_000314.8

p.L325I

c.973C>A

4 papers

NM_000314.8

p.L325V

c.973C>G

14 papers

NM_000314.8

p.L325F

c.973C>T

1 paper

NM_000314.8

p.L325delFs

c.975delT

1 paper

NM_000314.8

p.L325delFs

c.974_975delTT

1 paper

NM_000314.8

p.L325fs

c.973_974fs

1 paper

NM_000314.8

p.L325H

c.974T>A

7 papers

NM_000314.8

p.L325P

c.974T>C

1 paper

NM_000314.8

p.D324D

c.972T>C

7 papers

NM_000314.8

p.L325R

c.974T>G

1 paper

NM_000314.8

p.D324insFs

c.971_972insAT

1 paper

NM_000314.8

p.D324insFs

c.972dupT