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.Y29C

c.86A>G

Surrounding Variants

4 papers

NM_000314.8

p.Y29S

c.86A>C

6 papers

NM_000314.8

p.Y29F

c.86A>T

1 paper

NM_000314.8

p.P30_I32del3

c.88_95del9

10 papers

NM_000314.8

p.Y29*

c.87T>A

2 papers

NM_000314.8

p.Y29N

c.85T>A

3 papers

NM_000314.8

p.Y29H

c.85T>C

8 papers

NM_000314.8

p.Y29*

c.87T>G

1 paper

NM_000314.8

p.Y29D

c.85T>G

2 papers

NM_000314.8

p.Y29ins1

c.86_87insAAA

7 papers

NM_000314.8

p.Y29fs

c.85_86fs

3 papers

NM_000314.8

p.P30delFs

c.89delC

4 papers

NM_000314.8

p.P30T

c.88C>A