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.D331_K332delFs

c.993_994delCA

Surrounding Variants

2 papers

NM_000314.8

p.D331N

c.991G>A

5 papers

NM_000314.8

p.D331H

c.991G>C

7 papers

NM_000314.8

p.D331fs

c.991_992fs

1 paper

NM_000314.8

p.D331_K332insTA

c.991_995ins6

1 paper

NM_000314.8

p.D331Y

c.991G>T

3 papers

NM_000314.8

p.D331fs

c.991_992fs

1 paper

NM_000314.8

p.K330N

c.990A>C

12 papers

NM_000314.8

p.D331G

c.992A>G

1 paper

NM_000314.8

p.K330N

c.990A>T

2 papers

NM_000314.8

p.D331delFs

c.993delC

3 papers

NM_000314.8

p.K330R

c.989A>G

3 papers

NM_000314.8

p.K330I

c.989A>T