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.K237E

c.709A>G

Surrounding Variants

5 papers

NM_000314.8

p.K237fs

c.709_710fs

3 papers

NM_000314.8

p.K237*

c.709A>T

2 papers

NM_000314.8

p.K237fs

c.709_710fs

1 paper

NM_000314.8

p.M239_F243del0

c.715_729del15

2 papers

NM_000314.8

p.K237R

c.710A>G

1 paper

NM_000314.8

p.K237delFs

c.711delG

1 paper

NM_000314.8

p.D236E

c.708C>A

1 paper

NM_000314.8

p.K237insFs

c.710dupA

1 paper

NM_000314.8

p.K237insFs

c.710_711insAA

1 paper

NM_000314.8

p.D236E

c.708C>G

1 paper

NM_000314.8

p.K237delFs

c.710delA

1 paper

NM_000314.8

p.K237_M239delFs

c.709_715del7