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.S226delFs

c.678delC

Surrounding Variants

1 paper

NM_000314.8

p.S226P

c.676T>C

4 papers

NM_000314.8

p.S226A

c.676T>G

5 papers

NM_000314.8

p.S226fs

c.676_677fs

1 paper

NM_000314.8

p.S226fs

c.676_677fs

5 papers

NM_000314.8

p.S226F

c.677C>T

1 paper

NM_000314.8

p.S227_D236del10

c.679_707del30

15 papers

NM_000314.8

p.Y225*

c.675T>A

1 paper

NM_000314.8

p.Y225Y

c.675T>C

16 papers

NM_000314.8

p.Y225*

c.675T>G

1 paper

NM_000314.8

p.Y225_S226insFs

c.675_676insTA

1 paper

NM_000314.8

p.S226_N228delFs

c.676_682del7

4 papers

NM_000314.8

p.Y225C

c.674A>G