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.Q245L

c.734A>T

Surrounding Variants

2 papers

NM_000314.8

p.Q245P

c.734A>C

1 paper

NM_000314.8

p.Q245R

c.734A>G

2 papers

NM_000314.8

p.Q245K

c.733C>A

4 papers

NM_000314.8

p.Q245fs

c.733_734fs

1 paper

NM_000314.8

p.Q245_P246insIP

c.733_737ins6

1 paper

NM_000314.8

p.Q245E

c.733C>G

102 papers

NM_000314.8

p.Q245*

c.733C>T

1 paper

NM_000314.8

p.Q245delFs

c.734_735delAG

4 papers

NM_000314.8

p.Q245fs

c.733_734fs

2 papers

NM_000314.8

p.Q245_L247delFs

c.735_741del7

1 paper

NM_000314.8

p.Q245Q

c.735G>A

1 paper

NM_000314.8

p.Q245_P246insFs

c.735_736insA