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

6 papers

NM_000314.8

p.Y16D

c.46T>G

Surrounding Variants

2 papers

NM_000314.8

p.Y16N

c.46T>A

8 papers

NM_000314.8

p.Y16H

c.46T>C

6 papers

NM_000314.8

p.Y16insFs

c.46_47insA

9 papers

NM_000314.8

p.Y16fs

c.46_47fs

2 papers

NM_000314.8

p.Y16fs

c.46_47fs

1 paper

NM_000314.8

p.Y16_Q17del1

c.48_50delTCA

10 papers

NM_000314.8

p.Y16insFs

c.46dupT

48 papers

NM_001304717.5

p.R188S

c.564A>C

NM_000314.8

p.R15S

c.45A>C

6 papers

NM_000314.8

p.Y16S

c.47A>C

14 papers

NM_000314.8

p.Y16C

c.47A>G

45 papers

NM_001304717.5

p.R188S

c.564A>T

NM_000314.8

p.R15S

c.45A>T

2 papers

NM_000314.8

p.Y16F

c.47A>T