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

11 papers

NM_000314.8

p.S360G

c.1078A>G

Surrounding Variants

1 paper

NM_000314.8

p.A359G

c.1076C>G

2 papers

NM_000314.8

p.A359V

c.1076C>T

3 papers

NM_000314.8

p.S361R

c.1081A>C

2 papers

NM_000314.8

p.A359T

c.1075G>A

2 papers

NM_000314.8

p.E358E

c.1074G>A

2 papers

NM_000314.8

p.S361N

c.1082G>A

2 papers

NM_000314.8

p.E358D

c.1074G>C

1 paper

NM_000314.8

p.S361T

c.1082G>C

1 paper

NM_000314.8

p.E358D

c.1074G>T

2 papers

NM_000314.8

p.A359_S362del4

c.1075_1085del12

1 paper

NM_000314.8

p.S361R

c.1083T>A

1 paper

NM_000314.8

p.S361R

c.1083T>G