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

20 papers

NM_000314.8

p.D252Y

c.754G>T

Surrounding Variants

13 papers

NM_000314.8

p.D252N

c.754G>A

1 paper

NM_000314.8

p.D252H

c.754G>C

1 paper

NM_000314.8

p.D252insFs

c.754_755ins38

4 papers

NM_000314.8

p.D252fs

c.754_755fs

2 papers

NM_000314.8

p.D252fs

c.754_755fs

3 papers

NM_000314.8

p.D252insFs

c.756dupT

67 papers

NM_000314.8

p.D252G

c.755A>G

20 papers

NM_000314.8

p.D252V

c.755A>T

1 paper

NM_000314.8

p.D252_I253del2

c.754_758del6

17 papers

NM_000314.8

p.G251D

c.752G>A

7 papers

NM_000314.8

p.G251A

c.752G>C

19 papers

NM_000314.8

p.G251V

c.752G>T