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

39 papers

NM_000314.8

p.L112P

c.335T>C

Surrounding Variants

7 papers

NM_000314.8

p.L112Q

c.335T>A

12 papers

NM_000314.8

p.L112R

c.335T>G

1 paper

NM_000314.8

p.S113insFs

c.337dupA

3 papers

NM_000314.8

p.S113_D115delFs

c.339_343del5

1 paper

NM_000314.8

p.L112I

c.334C>A

32 papers

NM_000314.8

p.L112V

c.334C>G

1 paper

NM_000314.8

p.L112fs

c.334_335fs

1 paper

NM_000314.8

p.L112_V119delFs

c.336_357del22

3 papers

NM_000314.8

p.S113fs

c.337_338fs

1 paper

NM_000314.8

p.S113R

c.337A>C

4 papers

NM_000314.8

p.S113fs

c.337_338fs

26 papers

NM_000314.8

p.W111*

c.333G>A