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

7 papers

NM_000314.8

p.Y76fs

c.226_227fs

Surrounding Variants

1 paper

NM_000314.8

p.Y76H

c.226T>C

2 papers

NM_000314.8

p.Y76D

c.226T>G

2 papers

NM_000314.8

p.Y76fs

c.226_227fs

1 paper

NM_000314.8

p.Y76_A79delFs

c.227_236del10

1 paper

NM_000314.8

p.Y76_K80delFs

c.227_239del13

1 paper

NM_000314.8

p.Y76insFs

c.228dupT

1 paper

NM_000314.8

p.Y76C

c.227A>G

1 paper

NM_000314.8

p.Y76F

c.227A>T

1 paper

NM_000314.8

p.Y76delFs

c.228delT

3 papers

NM_000314.8

p.H75Q

c.225T>A

3 papers

NM_000314.8

p.H75Q

c.225T>G

5 papers

NM_000314.8

p.Y76delFs

c.227_228delAT