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

6 papers

NM_000314.8

p.R11K

c.32G>A

Surrounding Variants

1 paper

NM_000314.8

p.R11T

c.32G>C

8 papers

NM_000314.8

p.R11I

c.32G>T

1 paper

NM_000314.8

p.R11_N12del1

c.33_35delAAA

3 papers

NM_000314.8

p.R11fs

c.31_32fs

1 paper

NM_000314.8

p.R11insFs

c.31_32insT

1 paper

NM_000314.8

p.R11ins1

c.31_32insTGG

3 papers

NM_000314.8

p.R11S

c.33A>C

2 papers

NM_000314.8

p.R11G

c.31A>G

1 paper

NM_000314.8

p.R11R

c.33A>G

3 papers

NM_000314.8

p.R11*

c.31A>T

3 papers

NM_000314.8

p.R11S

c.33A>T

1 paper

NM_000314.8

p.N12_E18delFs

c.35_53del19