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

2 papers

NM_000314.8

p.E390K

c.1168G>A

Surrounding Variants

1 paper

NM_000314.8

p.E390*

c.1168G>T

2 papers

NM_000314.8

p.E390G

c.1169A>G

1 paper

NM_000314.8

p.E390delFs

c.1168_1169delGA

1 paper

NM_000314.8

p.E390del1

c.1168_1169delGAA

1 paper

NM_000314.8

p.N389T

c.1166A>C

1 paper

NM_000314.8

p.N389_E390ins6

c.1165_1169ins18

1 paper

NM_000314.8

p.N389D

c.1165A>G

2 papers

NM_000314.8

p.E390_D393del4

c.1168_1178del12

8 papers

NM_000314.8

p.P391S

c.1171C>T

1 paper

NM_000314.8

p.P391L

c.1172C>T

1 paper

NM_000314.8

p.F392delFs

c.1176delT

1 paper

NM_000314.8

p.N389_F392del4

c.1165_1175del12