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

2 papers

NM_000314.8

p.Y188H

c.562T>C

Surrounding Variants

1 paper

NM_000314.8

p.Y188N

c.562T>A

3 papers

NM_000314.8

p.Y188D

c.562T>G

3 papers

NM_000314.8

p.Y188fs

c.562_563fs

2 papers

NM_000314.8

p.Y188fs

c.562_563fs

3 papers

NM_000314.8

p.Y188S

c.563A>C

3 papers

NM_000314.8

p.Y188C

c.563A>G

1 paper

NM_000314.8

p.Y188F

c.563A>T

1 paper

NM_000314.8

p.Y188_A192del0

c.564_575del12

1 paper

NM_000314.8

p.D187E

c.561T>A

1 paper

NM_000314.8

p.D187E

c.561T>G

2 papers

NM_000314.8

p.Y188insFs

c.562_563insT

1 paper

NM_000314.8

p.D187G

c.560A>G