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.D371N

c.1111G>A

Surrounding Variants

1 paper

NM_000314.8

p.D371insFs

c.1111_1112ins5

5 papers

NM_000314.8

p.D371fs

c.1111_1112fs

1 paper

NM_000314.8

p.D371A

c.1112A>C

1 paper

NM_000314.8

p.D371G

c.1112A>G

1 paper

NM_000314.8

p.D371delFs

c.1113delC

2 papers

NM_000314.8

p.D371E

c.1113C>A

2 papers

NM_000314.8

p.D371E

c.1113C>G

1 paper

NM_000314.8

p.N372del1

c.1114_1116delAAT

1 paper

NM_000314.8

p.N372_E373delFs

c.1116_1119del4

1 paper

NM_000314.8

p.S370T

c.1109G>C

2 papers

NM_000314.8

p.S370_D371insFs

c.1110_1111dupTG

1 paper

NM_000314.8

p.S370fs

c.1108_1109fs