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.D368Y

c.1102G>T

Surrounding Variants

1 paper

NM_000314.8

p.D368V

c.1103A>T

1 paper

NM_000314.8

p.D368_S370del3

c.1102_1109del9

1 paper

NM_000314.8

p.P367R

c.1100C>G

3 papers

NM_000314.8

p.D368D

c.1104T>C

2 papers

NM_000314.8

p.P367fs

c.1099_1100fs

1 paper

NM_000314.8

p.P367S

c.1099C>T

3 papers

NM_000314.8

p.V369I

c.1105G>A

1 paper

NM_000314.8

p.V369delFs

c.1107delT

6 papers

NM_000314.8

p.P367delFs

c.1100delC

1 paper

NM_000314.8

p.V369D

c.1106T>A

2 papers

NM_000314.8

p.V369A

c.1106T>C

2 papers

NM_000314.8

p.V369G

c.1106T>G