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

1 paper

NM_000314.8

p.L112fs

c.334_335fs

Surrounding Variants

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.L112_V119delFs

c.336_357del22

26 papers

NM_000314.8

p.W111*

c.333G>A

9 papers

NM_000314.8

p.W111C

c.333G>C

9 papers

NM_000314.8

p.W111C

c.333G>T

1 paper

NM_000314.8

p.L112_S113del2

c.334_338del6

1 paper

NM_000314.8

p.L112_E114del3

c.334_341del9

1 paper

NM_000314.8

p.L112_D116delFs

c.335_348del14

7 papers

NM_000314.8

p.L112Q

c.335T>A

39 papers

NM_000314.8

p.L112P

c.335T>C

12 papers

NM_000314.8

p.L112R

c.335T>G