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.E235_K237delFs

c.704_711del8

Surrounding Variants

1 paper

NM_000314.8

p.R234R

c.702G>C

1 paper

NM_000314.8

p.R234_E235insFs

c.702_703insC

34 papers

NM_000314.8

p.R234Q

c.701G>A

6 papers

NM_000314.8

p.E235K

c.703G>A

3 papers

NM_000314.8

p.E235Q

c.703G>C

1 paper

NM_000314.8

p.E235insFs

c.703_704ins20

1 paper

NM_000314.8

p.R234insFs

c.701_702ins4

1 paper

NM_000314.8

p.R234_E235insFs

c.702_703insCG

1 paper

NM_000314.8

p.E235insFs

c.703_704ins8

1 paper

NM_000314.8

p.R234ins2

c.701_702ins6

8 papers

NM_000314.8

p.E235fs

c.703_704fs

18 papers

NM_000314.8

p.E235*

c.703G>T