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.R74K

c.221G>A

Surrounding Variants

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

1 paper

NM_000314.8

p.R74insFs

c.221dupG

1 paper

NM_000314.8

p.R74fs

c.220_221fs

1 paper

NM_000314.8

p.R74G

c.220A>G

1 paper

NM_000314.8

p.R74*

c.220A>T

1 paper

NM_000314.8

p.H75delFs

c.223delC

1 paper

NM_000314.8

p.R74delFs

c.221delG

2 papers

NM_000314.8

p.R74fs

c.220_221fs

4 papers

NM_000314.8

p.E73D

c.219A>C

4 papers

NM_000314.8

p.E73D

c.219A>T