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

1 paper

NM_000314.8

p.F392S

c.1175T>C

Surrounding Variants

1 paper

NM_000314.8

p.F392C

c.1175T>G

1 paper

NM_000314.8

p.D393del1

c.1177_1178delGAT

1 paper

NM_000314.8

p.F392V

c.1174T>G

1 paper

NM_000314.8

p.F392fs

c.1174_1175fs

2 papers

NM_000314.8

p.D393N

c.1177G>A

1 paper

NM_000314.8

p.D393_E394insGG

c.1177_1181ins6

1 paper

NM_000314.8

p.P391P

c.1173T>G

1 paper

NM_000314.8

p.P391L

c.1172C>T

1 paper

NM_000314.8

p.F392delFs

c.1176delT

8 papers

NM_000314.8

p.P391S

c.1171C>T

1 paper

NM_000314.8

p.D393E

c.1179T>A

1 paper

NM_000314.8

p.D393E

c.1179T>G