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.S10_R11insFs

c.30_31insT

Surrounding Variants

9 papers

NM_000314.8

p.S10R

c.30C>A

9 papers

NM_000314.8

p.S10R

c.30C>G

1 paper

NM_000314.8

p.R11delFs

c.32_33delGA

1 paper

NM_000314.8

p.R11_N12del1

c.32_34delGAA

1 paper

NM_000314.8

p.R11_R14del4

c.31_41del12

1 paper

NM_000314.8

p.R11_Q17delFs

c.31_50del20

1 paper

NM_000314.8

p.R11_Q17del7

c.31_50del21

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

2 papers

NM_000314.8

p.R11G

c.31A>G

3 papers

NM_000314.8

p.R11*

c.31A>T