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.I306fs

c.916_917fs

Surrounding Variants

3 papers

NM_000314.8

p.I306fs

c.916_917fs

1 paper

NM_000314.8

p.I306insFs

c.917dupT

1 paper

NM_000314.8

p.I306V

c.916A>G

1 paper

NM_000314.8

p.I306insFs

c.916dupA

1 paper

NM_000314.8

p.I306M

c.918A>G

1 paper

NM_000314.8

p.E307del1

c.919_921delGAG

1 paper

NM_000314.8

p.E307_R308delFs

c.920_923del4

10 papers

NM_000314.8

p.S305N

c.914G>A

1 paper

NM_000314.8

p.S305T

c.914G>C

1 paper

NM_000314.8

p.S305insFs

c.914_915insTA

1 paper

NM_000314.8

p.S305_I306insFs

c.915_918dup4

2 papers

NM_000314.8

p.S305I

c.914G>T