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

9 papers

NM_000314.8

p.T348I

c.1043C>T

Surrounding Variants

3 papers

NM_000314.8

p.T348insFs

c.1043_1044insA

1 paper

NM_000314.8

p.T348R

c.1043C>G

1 paper

NM_000314.8

p.T348_K349delFs

c.1044_1045delAA

1 paper

NM_000314.8

p.T348fs

c.1042_1043fs

1 paper

NM_000314.8

p.T348A

c.1042A>G

2 papers

NM_000314.8

p.T348S

c.1042A>T

13 papers

NM_000314.8

p.F347L

c.1041C>A

13 papers

NM_000314.8

p.F347L

c.1041C>G

3 papers

NM_000314.8

p.K349R

c.1046A>G

3 papers

NM_000314.8

p.K349I

c.1046A>T

1 paper

NM_000314.8

p.F347S

c.1040T>C

1 paper

NM_000314.8

p.T350_E353del4

c.1048_1058del12