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.I253F

c.757A>T

Surrounding Variants

3 papers

NM_000314.8

p.I253fs

c.757_758fs

1 paper

NM_000314.8

p.I253delFs

c.758delT

4 papers

NM_000314.8

p.I253fs

c.757_758fs

18 papers

NM_000314.8

p.I253N

c.758T>A

2 papers

NM_000314.8

p.D252E

c.756T>A

2 papers

NM_000314.8

p.I253T

c.758T>C

1 paper

NM_000314.8

p.D252D

c.756T>C

3 papers

NM_000314.8

p.I253S

c.758T>G

2 papers

NM_000314.8

p.D252E

c.756T>G

2 papers

NM_000314.8

p.D252_I253insFs

c.756_757insA

1 paper

NM_000314.8

p.I253insFs

c.758_759insA

1 paper

NM_000314.8

p.I253delFs

c.757delA