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

10 papers

NM_000314.8

p.L42F

c.124C>T

Surrounding Variants

29 papers

NM_000314.8

p.L42I

c.124C>A

2 papers

NM_000314.8

p.L42Fs

c.125delinsTTFs

24 papers

NM_000314.8

p.L42V

c.124C>G

1 paper

NM_000314.8

p.L42fs

c.124_125fs

2 papers

NM_000314.8

p.R41S

c.123A>C

2 papers

NM_000314.8

p.R41S

c.123A>T

2 papers

NM_000314.8

p.L42H

c.125T>A

11 papers

NM_000314.8

p.L42P

c.125T>C

29 papers

NM_000314.8

p.L42R

c.125T>G

1 paper

NM_000314.8

p.E43_I50delFs

c.127_149del23

3 papers

NM_000314.8

p.R41K

c.122G>A

2 papers

NM_000314.8

p.R41T

c.122G>C