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

94 papers

NM_000314.8

p.C136Y

c.407G>A

Surrounding Variants

3 papers

NM_000314.8

p.C136S

c.407G>C

20 papers

NM_000314.8

p.C136F

c.407G>T

1 paper

NM_000314.8

p.A137_L140delFs

c.409_419del11

5 papers

NM_000314.8

p.C136*

c.408T>A

3 papers

NM_000314.8

p.C136S

c.406T>A

99 papers

NM_000314.8

p.C136R

c.406T>C

8 papers

NM_000314.8

p.C136W

c.408T>G

1 paper

NM_000314.8

p.C136G

c.406T>G

3 papers

NM_000314.8

p.C136insFs

c.406_407insA

12 papers

NM_000314.8

p.C136fs

c.406_407fs

1 paper

NM_000314.8

p.C136_A137insT

c.406_410ins3

1 paper

NM_000314.8

p.C136delFs

c.407delG