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

2 papers

NM_000314.8

p.R130_T131delFs

c.390_393del4

Surrounding Variants

440 papers

NM_000314.8

p.R130Q

c.389G>A

58 papers

NM_000314.8

p.R130P

c.389G>C

90 papers

NM_000314.8

p.R130L

c.389G>T

2 papers

NM_000314.8

p.R130R

c.390A>G

3 papers

NM_000314.8

p.R130R

c.388C>A

1 paper

NM_000314.8

p.R130ins2

c.389_390ins6

24 papers

NM_000314.8

p.R130fs

c.388_389fs

252 papers

NM_000314.8

p.R130G

c.388C>G

394 papers

NM_001304717.5

p.R303*

c.907C>T

NM_000314.8

p.R130*

c.388C>T

1 paper

NM_000314.8

p.R130delins

c.388_389delinsAA

19 papers

NM_000314.8

p.R130delFs

c.389delG

14 papers

NM_000314.8

p.R130fs

c.388_389fs