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.E307Q

c.919G>C

Surrounding Variants

16 papers

NM_000314.8

p.E307K

c.919G>A

2 papers

NM_000314.8

p.E307insFs

c.920_921ins4

5 papers

NM_000314.8

p.E307fs

c.919_920fs

9 papers

NM_000314.8

p.E307*

c.919G>T

4 papers

NM_000314.8

p.E307fs

c.919_920fs

2 papers

NM_000314.8

p.E307G

c.920A>G

1 paper

NM_000314.8

p.I306M

c.918A>G

1 paper

NM_000314.8

p.E307del1

c.919_921delGAG

1 paper

NM_000314.8

p.E307_R308delFs

c.920_923del4

4 papers

NM_000314.8

p.E307E

c.921G>A

2 papers

NM_000314.8

p.R308delFs

c.922delC

1 paper

NM_000314.8

p.R308_D312delFs

c.923_936del14