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.Y177_L182del0

c.529_546del18

Surrounding Variants

14 papers

NM_000314.8

p.Y176*

c.528T>A

1 paper

NM_000314.8

p.Y176Y

c.528T>C

14 papers

NM_000314.8

p.Y176*

c.528T>G

1 paper

NM_000314.8

p.Y177delFs

c.530_531delAT

25 papers

NM_000314.8

p.Y176C

c.527A>G

1 paper

NM_000314.8

p.Y176F

c.527A>T

1 paper

NM_000314.8

p.Y177_Y180delFs

c.529_538del10

4 papers

NM_000314.8

p.Y177N

c.529T>A

5 papers

NM_000314.8

p.Y177H

c.529T>C

1 paper

NM_000314.8

p.Y177D

c.529T>G

5 papers

NM_000314.8

p.Y177fs

c.529_530fs

1 paper

NM_000314.8

p.Y177delFs

c.530delA