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.T350fs

c.1048_1049fs

Surrounding Variants

1 paper

NM_000314.8

p.T350fs

c.1048_1049fs

1 paper

NM_000314.8

p.T350_E353del4

c.1048_1058del12

1 paper

NM_000314.8

p.T350_S360del11

c.1048_1079del33

2 papers

NM_000314.8

p.V351_E352del1

c.1052_1054delTAG

3 papers

NM_000314.8

p.K349R

c.1046A>G

3 papers

NM_000314.8

p.K349I

c.1046A>T

2 papers

NM_000314.8

p.V351I

c.1051G>A

1 paper

NM_000314.8

p.V351delFs

c.1052delT

1 paper

NM_000314.8

p.V351E

c.1052T>A

2 papers

NM_000314.8

p.E352del1

c.1054_1055delGAG

3 papers

NM_000314.8

p.T348insFs

c.1043_1044insA

1 paper

NM_000314.8

p.T348R

c.1043C>G