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.A79delFs

c.237delC

Surrounding Variants

54 papers

NM_000314.8

p.A79T

c.235G>A

1 paper

NM_000314.8

p.A79P

c.235G>C

1 paper

NM_000314.8

p.A79fs

c.235_236fs

3 papers

NM_000314.8

p.A79S

c.235G>T

1 paper

NM_000314.8

p.A79fs

c.235_236fs

1 paper

NM_000314.8

p.A79D

c.236C>A

1 paper

NM_000314.8

p.A79insFs

c.235dupG

2 papers

NM_000314.8

p.A79G

c.236C>G

6 papers

NM_000314.8

p.T78T

c.234C>T

5 papers

NM_000314.8

p.A79V

c.236C>T

1 paper

NM_000314.8

p.A79delFs

c.235delG

3 papers

NM_000314.8

p.T78N

c.233C>A