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.E373K

c.1117G>A

Surrounding Variants

1 paper

NM_000314.8

p.E373delFs

c.1118delA

1 paper

NM_000314.8

p.E373fs

c.1117_1118fs

1 paper

NM_000314.8

p.E373V

c.1118A>T

1 paper

NM_000314.8

p.E373insFs

c.1117dupG

3 papers

NM_000314.8

p.P374insFs

c.1120_1121dupCC

2 papers

NM_000314.8

p.N372S

c.1115A>G

2 papers

NM_000314.8

p.P374delFs

c.1121delC

1 paper

NM_000314.8

p.N372_E373insA

c.1114_1118ins3

1 paper

NM_000314.8

p.N372H

c.1114A>C

2 papers

NM_000314.8

p.N372D

c.1114A>G

1 paper

NM_000314.8

p.P374T

c.1120C>A

1 paper

NM_000314.8

p.P374fs

c.1120_1121fs