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

9 papers

NM_000314.8

p.K128T

c.383A>C

Surrounding Variants

9 papers

NM_000314.8

p.K128R

c.383A>G

8 papers

NM_000314.8

p.K128M

c.383A>T

2 papers

NM_000314.8

p.G129delFs

c.386delG

1 paper

NM_000314.8

p.K128fs

c.382_383fs

11 papers

NM_000314.8

p.K128Q

c.382A>C

7 papers

NM_000314.8

p.K128E

c.382A>G

4 papers

NM_000314.8

p.K128*

c.382A>T

25 papers

NM_000314.8

p.K128N

c.384G>C

27 papers

NM_000314.8

p.K128N

c.384G>T

1 paper

NM_000314.8

p.G127G

c.381A>G

140 papers

NM_000314.8

p.G129R

c.385G>A

138 papers

NM_000314.8

p.G129R

c.385G>C