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

2 papers

NM_000314.8

p.I67insFs

c.200_201insA

Surrounding Variants

8 papers

NM_000314.8

p.I67K

c.200T>A

6 papers

NM_000314.8

p.I67T

c.200T>C

11 papers

NM_000314.8

p.I67R

c.200T>G

1 paper

NM_000314.8

p.Y68_N69delFs

c.202_205del4

1 paper

NM_000314.8

p.I67fs

c.199_200fs

1 paper

NM_000314.8

p.I67_Y68ins7

c.199_203ins21

2 papers

NM_000314.8

p.I67insFs

c.200_201insT

1 paper

NM_000314.8

p.Y68ins1

c.202_203insTAT

1 paper

NM_000314.8

p.I67L

c.199A>C

2 papers

NM_000314.8

p.I67V

c.199A>G

1 paper

NM_000314.8

p.I67M

c.201A>G

1 paper

NM_000314.8

p.I67L

c.199A>T