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

36 papers

NM_000314.8

p.Y16*

c.48T>G

Surrounding Variants

37 papers

NM_000314.8

p.Y16*

c.48T>A

2 papers

NM_000314.8

p.Y16Y

c.48T>C

3 papers

NM_000314.8

p.Y16_Q17insFs

c.48_49insA

1 paper

NM_000314.8

p.Q17insFs

c.49dupC

3 papers

NM_000314.8

p.Q17del1

c.49_50delCAA

4 papers

NM_000314.8

p.Q17_E18del2

c.49_53del6

1 paper

NM_000314.8

p.Q17_G20del4

c.49_59del12

6 papers

NM_000314.8

p.Y16S

c.47A>C

14 papers

NM_000314.8

p.Y16C

c.47A>G

2 papers

NM_000314.8

p.Y16F

c.47A>T

1 paper

NM_000314.8

p.Y16delFs

c.48delT

1 paper

NM_000314.8

p.Y16_Q17delFs

c.48_49delTC