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

3 papers

NM_000314.8

p.Q17H

c.51A>C

Surrounding Variants

3 papers

NM_000314.8

p.Q17Q

c.51A>G

5 papers

NM_000314.8

p.Q17H

c.51A>T

1 paper

NM_000314.8

p.E18del1

c.52_54delGAG

3 papers

NM_000314.8

p.Q17P

c.50A>C

3 papers

NM_000314.8

p.Q17R

c.50A>G

1 paper

NM_000314.8

p.Q17L

c.50A>T

1 paper

NM_000314.8

p.Q17_E18delFs

c.51_52delAG

3 papers

NM_000314.8

p.E18K

c.52G>A

1 paper

NM_000314.8

p.E18Q

c.52G>C

6 papers

NM_000314.8

p.E18fs

c.52_53fs

2 papers

NM_000314.8

p.E18_D19insGCG

c.52_56ins9

3 papers

NM_000314.8

p.E18*

c.52G>T