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

4 papers

NM_000314.8

p.H123P

c.368A>C

Surrounding Variants

23 papers

NM_000314.8

p.H123R

c.368A>G

5 papers

NM_000314.8

p.H123L

c.368A>T

27 papers

NM_000314.8

p.H123Q

c.369C>A

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

2 papers

NM_000314.8

p.C124insFs

c.370dupT

1 paper

NM_000314.8

p.C124insFs

c.371_372dupGT

28 papers

NM_000314.8

p.H123Q

c.369C>G

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.H123H

c.369C>T