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

244 papers

NM_000314.8

p.R335*

c.1003C>T

Surrounding Variants

1 paper

NM_000314.8

p.R335R

c.1003C>A

5 papers

NM_000314.8

p.R335fs

c.1003_1004fs

6 papers

NM_000314.8

p.R335G

c.1003C>G

1 paper

NM_000314.8

p.R335Fs

c.1003delinsGAFs

2 papers

NM_000314.8

p.R335delFs

c.1004_1005delGA

4 papers

NM_000314.8

p.R335fs

c.1003_1004fs

1 paper

NM_000314.8

p.R335_Y336delFs

c.1004_1007del4

3 papers

NM_000314.8

p.N334K

c.1002C>A

3 papers

NM_000314.8

p.N334K

c.1002C>G

1 paper

NM_000314.8

p.N334N

c.1002C>T

1 paper

NM_000314.8

p.N334_R335delins

c.1002_1003delinsTT

22 papers

NM_000314.8

p.R335Q

c.1004G>A