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.P248_C250del0

c.742_750del9

Surrounding Variants

6 papers

NM_000314.8

p.P248insFs

c.742_743insC

3 papers

NM_000314.8

p.L247F

c.741A>C

3 papers

NM_000314.8

p.L247F

c.741A>T

1 paper

NM_000314.8

p.P248delFs

c.743delC

1 paper

NM_000314.8

p.L247_K254delins

c.741_762delinsT

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

1 paper

NM_000314.8

p.P248_I253delFs

c.743_758del16