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.E91_D92insFs

c.273_274insTT

Surrounding Variants

2 papers

NM_000314.8

p.E91D

c.273A>C

2 papers

NM_000314.8

p.E91D

c.273A>T

2 papers

NM_000314.8

p.E91A

c.272A>C

3 papers

NM_000314.8

p.E91G

c.272A>G

1 paper

NM_000314.8

p.E91V

c.272A>T

28 papers

NM_000314.8

p.D92N

c.274G>A

45 papers

NM_000314.8

p.D92H

c.274G>C

3 papers

NM_000314.8

p.D92fs

c.274_275fs

1 paper

NM_000314.8

p.D92_H93insAA

c.274_278ins6

30 papers

NM_000314.8

p.D92Y

c.274G>T

4 papers

NM_000314.8

p.D92fs

c.274_275fs

1 paper

NM_000314.8

p.D92_N94del0

c.275_280del6