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

59 papers

NM_000314.8

p.D92E

c.276C>G

Surrounding Variants

60 papers

NM_000314.8

p.D92E

c.276C>A

1 paper

NM_000314.8

p.D92D

c.276C>T

37 papers

NM_000314.8

p.D92A

c.275A>C

35 papers

NM_000314.8

p.D92G

c.275A>G

24 papers

NM_000314.8

p.D92V

c.275A>T

1 paper

NM_000314.8

p.H93_L98delFs

c.277_292del16

5 papers

NM_000314.8

p.H93N

c.277C>A

1 paper

NM_000314.8

p.H93fs

c.277_278fs

1 paper

NM_000314.8

p.H93_N94insP

c.277_281ins3

22 papers

NM_000314.8

p.H93D

c.277C>G

53 papers

NM_000314.8

p.H93Y

c.277C>T

1 paper

NM_000314.8

p.H93delFs

c.278delA