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

24 papers

NM_000314.8

p.I122I

c.366T>A

Surrounding Variants

3 papers

NM_000314.8

p.I122M

c.366T>G

4 papers

NM_000314.8

p.H123N

c.367C>A

1 paper

NM_000314.8

p.H123_K125ins1

c.369_374dup6

2 papers

NM_000314.8

p.H123fs

c.367_368fs

25 papers

NM_000314.8

p.H123D

c.367C>G

57 papers

NM_000314.8

p.H123Y

c.367C>T

1 paper

NM_000314.8

p.H123_C124del1

c.368_370delACT

6 papers

NM_000314.8

p.I122N

c.365T>A

2 papers

NM_000314.8

p.I122T

c.365T>C

18 papers

NM_000314.8

p.I122S

c.365T>G

3 papers

NM_000314.8

p.I122fs

c.364_365fs

1 paper

NM_000314.8

p.I122insFs

c.365dupT