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.D301fs

c.901_902fs

Surrounding Variants

12 papers

NM_000314.8

p.D301N

c.901G>A

3 papers

NM_000314.8

p.D301fs

c.901_902fs

1 paper

NM_000314.8

p.S302_I303delFs

c.904_908del5

1 paper

NM_000314.8

p.D301_S305delFs

c.903_913del11

2 papers

NM_000314.8

p.D301A

c.902A>C

7 papers

NM_000314.8

p.I300I

c.900C>T

2 papers

NM_000314.8

p.D301delFs

c.901delG

1 paper

NM_000314.8

p.D301D

c.903T>C

8 papers

NM_000314.8

p.I300delFs

c.900delC

9 papers

NM_000314.8

p.I300fs

c.898_899fs

1 paper

NM_000314.8

p.S302fs

c.904_905fs

1 paper

NM_000314.8

p.I300_D301insTG

c.898_902ins6