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

3 papers

NM_000314.8

p.H75insFs

c.224dupA

Surrounding Variants

3 papers

NM_000314.8

p.H75N

c.223C>A

3 papers

NM_000314.8

p.H75fs

c.223_224fs

1 paper

NM_000314.8

p.H75fs

c.223_224fs

7 papers

NM_000314.8

p.Y76del1

c.226_227delTAT

1 paper

NM_000314.8

p.H75P

c.224A>C

1 paper

NM_000314.8

p.H75delFs

c.223delC

1 paper

NM_000314.8

p.Y76delFs

c.226delT

1 paper

NM_000314.8

p.R74K

c.221G>A

8 papers

NM_000314.8

p.R74T

c.221G>C

6 papers

NM_000314.8

p.R74I

c.221G>T

1 paper

NM_000314.8

p.H75delFs

c.223_224delCA

3 papers

NM_000314.8

p.H75Q

c.225T>A