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

95 papers

NM_000314.8

p.T319_L320delFs

c.955_958del4

Surrounding Variants

8 papers

NM_000314.8

p.V317I

c.949G>A

45 papers

NM_000314.8

p.V317fs

c.949_950fs

1 paper

NM_000314.8

p.T319_L320insFs

c.955_958dup4

1 paper

NM_000314.8

p.V317fs

c.949_950fs

1 paper

NM_000314.8

p.V317_L318delFs

c.950_954del5

1 paper

NM_000314.8

p.L316L

c.948A>G

2 papers

NM_000314.8

p.V317_L318del2

c.949_953del6

2 papers

NM_000314.8

p.V317G

c.950T>G

1 paper

NM_000314.8

p.V317insFs

c.951dupA

1 paper

NM_000314.8

p.V317_L318Fs

c.950_954delinsAFs

1 paper

NM_000314.8

p.L318_T321delFs

c.953_962del10

1 paper

NM_000314.8

p.L318del1

c.952_953delCTT