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.E394*

c.1180G>T

Surrounding Variants

4 papers

NM_000314.8

p.E394K

c.1180G>A

1 paper

NM_000314.8

p.D393E

c.1179T>A

1 paper

NM_000314.8

p.D393E

c.1179T>G

1 paper

NM_000314.8

p.D393_E394ins6

c.1179_1180ins18

2 papers

NM_000314.8

p.D393N

c.1177G>A

1 paper

NM_000314.8

p.D395H

c.1183G>C

1 paper

NM_000314.8

p.D393_E394insGG

c.1177_1181ins6

1 paper

NM_000314.8

p.D395Y

c.1183G>T

1 paper

NM_000314.8

p.F392S

c.1175T>C

1 paper

NM_000314.8

p.F392C

c.1175T>G

1 paper

NM_000314.8

p.D393del1

c.1177_1178delGAT

4 papers

NM_000314.8

p.Q396E

c.1186C>G