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

1 paper

NM_000314.8

p.M264insFs

c.791_792insT

Surrounding Variants

2 papers

NM_000314.8

p.M264fs

c.790_791fs

1 paper

NM_000314.8

p.M264_L265ins10

c.790_794ins30

2 papers

NM_000314.8

p.M264V

c.790A>G

1 paper

NM_000314.8

p.M264delFs

c.791_792delTG

1 paper

NM_000314.8

p.M264_L265del1

c.792_794delGCT

1 paper

NM_000314.8

p.M264_L265delFs

c.791_794del4

2 papers

NM_000314.8

p.K263N

c.789G>C

3 papers

NM_000314.8

p.M264insFs

c.791_792insAT

1 paper

NM_000314.8

p.K263N

c.789G>T

2 papers

NM_000314.8

p.M264delFs

c.790delA

3 papers

NM_000314.8

p.M264R

c.791T>G

1 paper

NM_000314.8

p.M264delFs

c.792delG