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.D153fs

c.457_458fs

Surrounding Variants

7 papers

NM_000314.8

p.D153N

c.457G>A

5 papers

NM_000314.8

p.D153H

c.457G>C

3 papers

NM_000314.8

p.D153fs

c.457_458fs

8 papers

NM_000314.8

p.D153Y

c.457G>T

1 paper

NM_000314.8

p.D153delFs

c.458_459delAT

1 paper

NM_000314.8

p.D153A

c.458A>C

3 papers

NM_000314.8

p.D153V

c.458A>T

4 papers

NM_000314.8

p.F154delFs

c.461delT

3 papers

NM_000314.8

p.D153E

c.459T>A

1 paper

NM_000314.8

p.L152Q

c.455T>A

16 papers

NM_000314.8

p.L152P

c.455T>C

3 papers

NM_000314.8

p.L152R

c.455T>G