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.K60N

c.180G>C

Surrounding Variants

3 papers

NM_000314.8

p.K60N

c.180G>T

1 paper

NM_000314.8

p.H61delFs

c.181delC

4 papers

NM_000314.8

p.K60T

c.179A>C

2 papers

NM_000314.8

p.K60R

c.179A>G

2 papers

NM_000314.8

p.K60M

c.179A>T

1 paper

NM_000314.8

p.K60delFs

c.180delG

6 papers

NM_000314.8

p.H61N

c.181C>A

1 paper

NM_000314.8

p.H61fs

c.181_182fs

20 papers

NM_000314.8

p.H61D

c.181C>G

6 papers

NM_000314.8

p.H61Y

c.181C>T

2 papers

NM_000314.8

p.H61fs

c.181_182fs

1 paper

NM_000314.8

p.K62_I67delFs

c.185_201del17