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

4 papers

NM_000314.8

p.D115G

c.344A>G

Surrounding Variants

1 paper

NM_000314.8

p.D115insFs

c.344_345insC

8 papers

NM_000314.8

p.D115N

c.343G>A

3 papers

NM_000314.8

p.D115fs

c.343_344fs

3 papers

NM_000314.8

p.D115Y

c.343G>T

1 paper

NM_000314.8

p.D115_H118del0

c.344_352del9

2 papers

NM_000314.8

p.D116_A120insFs

c.346_358dup13

1 paper

NM_000314.8

p.D115_D116insFs

c.345_346insTG

1 paper

NM_000314.8

p.D116delFs

c.346delG

2 papers

NM_000314.8

p.E114D

c.342A>C

2 papers

NM_000314.8

p.E114D

c.342A>T

1 paper

NM_000314.8

p.D115delFs

c.343delG

1 paper

NM_000314.8

p.D116N

c.346G>A