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

32 papers

NM_000314.8

p.P95L

c.284C>T

Surrounding Variants

6 papers

NM_000314.8

p.P95Q

c.284C>A

5 papers

NM_000314.8

p.P95R

c.284C>G

1 paper

NM_000314.8

p.P95_L98del0

c.285_293del9

1 paper

NM_000314.8

p.P95P

c.285A>G

1 paper

NM_000314.8

p.P95P

c.285A>T

1 paper

NM_000314.8

p.P96delFs

c.287delC

7 papers

NM_000314.8

p.P95T

c.283C>A

1 paper

NM_000314.8

p.P96_Q97insFs

c.286_290dup5

1 paper

NM_000314.8

p.P95fs

c.283_284fs

1 paper

NM_000314.8

p.P95A

c.283C>G

20 papers

NM_000314.8

p.P95S

c.283C>T

1 paper

NM_000314.8

p.P95_L108delFs

c.284_323del40