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.I33M

c.99T>G

Surrounding Variants

1 paper

NM_000314.8

p.I33I

c.99T>C

10 papers

NM_000314.8

p.A34T

c.100G>A

6 papers

NM_000314.8

p.A34P

c.100G>C

3 papers

NM_000314.8

p.A34fs

c.100_101fs

4 papers

NM_000314.8

p.A34S

c.100G>T

3 papers

NM_000314.8

p.A34fs

c.100_101fs

2 papers

NM_000314.8

p.I33N

c.98T>A

1 paper

NM_000314.8

p.I33Fs

c.98delinsAAFs

7 papers

NM_000314.8

p.I33T

c.98T>C

76 papers

NM_000314.8

p.I33S

c.98T>G

1 paper

NM_000314.8

p.I33_A34delFs

c.99_100delTG

2 papers

NM_000314.8

p.I33fs

c.97_98fs