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.V249_G251del0

c.746_751del6

Surrounding Variants

2 papers

NM_000314.8

p.P248H

c.743C>A

1 paper

NM_000314.8

p.P248insFs

c.744dupT

2 papers

NM_000314.8

p.G251insFs

c.751_752ins4

6 papers

NM_000314.8

p.P248R

c.743C>G

3 papers

NM_000314.8

p.P248L

c.743C>T

7 papers

NM_000314.8

p.C250_G251delFs

c.750_751delTG

7 papers

NM_000314.8

p.P248insFs

c.742_743insA

44 papers

NM_000314.8

p.P248fs

c.742_743fs

3 papers

NM_000314.8

p.P248A

c.742C>G

8 papers

NM_000314.8

p.P248S

c.742C>T

1 paper

NM_000314.8

p.P248delFs

c.743_744delCT

21 papers

NM_000314.8

p.P248fs

c.742_743fs