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

6 papers

NM_000314.8

p.V85L

c.253G>C

Surrounding Variants

5 papers

NM_000314.8

p.V85I

c.253G>A

1 paper

NM_000314.8

p.V85_A86insT

c.253_257ins3

10 papers

NM_000314.8

p.V85F

c.253G>T

1 paper

NM_000314.8

p.V85insFs

c.253dupG

3 papers

NM_000314.8

p.R84S

c.252A>T

12 papers

NM_000314.8

p.V85Splc

c.253+1G>A

4 papers

NM_000314.8

p.V85Splc

c.253+1G>C

23 papers

NM_000314.8

p.V85Splc

c.253+1G>T

1 paper

NM_000314.8

p.V85D

c.254T>A

4 papers

NM_000314.8

p.V85A

c.254T>C

2 papers

NM_000314.8

p.V85G

c.254T>G

7 papers

NM_000314.8

p.R84K

c.251G>A