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.A309_D310ins10

c.925_929ins30

Surrounding Variants

3 papers

NM_000314.8

p.A309T

c.925G>A

3 papers

NM_000314.8

p.A309S

c.925G>T

1 paper

NM_000314.8

p.A309_N311insFs

c.927_933dup7

3 papers

NM_000314.8

p.A309V

c.926C>T

1 paper

NM_000314.8

p.R308R

c.924T>A

1 paper

NM_000314.8

p.A309_D312del4

c.925_935del12

1 paper

NM_000314.8

p.D310_L318del9

c.928_953del27

13 papers

NM_000314.8

p.R308H

c.923G>A

1 paper

NM_000314.8

p.R308P

c.923G>C

1 paper

NM_000314.8

p.R308S

c.922C>A

1 paper

NM_000314.8

p.R308insFs

c.922_923insA

1 paper

NM_000314.8

p.R308_D310insFs

c.924_928dup5