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

8 papers

NM_000314.8

p.R234L

c.701G>T

Surrounding Variants

34 papers

NM_000314.8

p.R234Q

c.701G>A

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.R234ins2

c.701_702ins6

1 paper

NM_000314.8

p.R234_E235Fs

c.701_705delinsTCTCCCAGGGGGFs

2 papers

NM_000314.8

p.E235insFs

c.703dupG

9 papers

NM_000314.8

p.R234fs

c.700_701fs

5 papers

NM_000314.8

p.R234G

c.700C>G

20 papers

NM_000314.8

p.R234W

c.700C>T

4 papers

NM_000314.8

p.E235delFs

c.703delG

1 paper

NM_000314.8

p.R234_E235delFs

c.702_703delGG

12 papers

NM_000314.8

p.R234fs

c.700_701fs