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

42 papers

NM_000314.8

p.G132V

c.395G>T

Surrounding Variants

80 papers

NM_000314.8

p.G132D

c.395G>A

11 papers

NM_000314.8

p.G132A

c.395G>C

1 paper

NM_000314.8

p.G132delFs

c.396delT

21 papers

NM_000314.8

p.G132S

c.394G>A

6 papers

NM_000314.8

p.G132R

c.394G>C

2 papers

NM_000314.8

p.G132fs

c.394_395fs

4 papers

NM_000314.8

p.G132C

c.394G>T

2 papers

NM_000314.8

p.G132fs

c.394_395fs

1 paper

NM_000314.8

p.G132_V133insFs

c.396_397insAC

35 papers

NM_000314.8

p.V133I

c.397G>A

2 papers

NM_000314.8

p.V133L

c.397G>C

1 paper

NM_000314.8

p.V133fs

c.397_398fs