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

9 papers

NM_000314.8

p.D19N

c.55G>A

Surrounding Variants

1 paper

NM_000314.8

p.D19H

c.55G>C

3 papers

NM_000314.8

p.D19fs

c.55_56fs

2 papers

NM_000314.8

p.D19Y

c.55G>T

4 papers

NM_000314.8

p.D19fs

c.55_56fs

3 papers

NM_000314.8

p.D19A

c.56A>C

4 papers

NM_000314.8

p.D19G

c.56A>G

2 papers

NM_000314.8

p.D19V

c.56A>T

1 paper

NM_000314.8

p.D19delFs

c.57delT

1 paper

NM_000314.8

p.G20_F21delFs

c.58_62del5

2 papers

NM_000314.8

p.E18D

c.54G>C

2 papers

NM_000314.8

p.E18D

c.54G>T

1 paper

NM_000314.8

p.D19_F21del3

c.55_62del9