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

14 papers

NM_000314.8

p.F154L

c.462C>G

Surrounding Variants

14 papers

NM_000314.8

p.F154L

c.462C>A

3 papers

NM_000314.8

p.Y155_E157del3

c.463_470del9

14 papers

NM_000314.8

p.Y155N

c.463T>A

18 papers

NM_000314.8

p.Y155H

c.463T>C

5 papers

NM_000314.8

p.F154S

c.461T>C

5 papers

NM_000314.8

p.F154C

c.461T>G

3 papers

NM_000314.8

p.Y155D

c.463T>G

1 paper

NM_000314.8

p.Y155insFs

c.463_464insG

3 papers

NM_000314.8

p.Y155fs

c.463_464fs

1 paper

NM_000314.8

p.Y155_G156ins5

c.463_467ins15

1 paper

NM_000314.8

p.Y155delFs

c.464delA

1 paper

NM_000314.8

p.F154delFs

c.462delC