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.A39_R41del0

c.115_123del9

Surrounding Variants

1 paper

NM_000314.8

p.P38P

c.114T>A

1 paper

NM_000314.8

p.P38P

c.114T>G

1 paper

NM_000314.8

p.A39_E40del2

c.115_119del6

14 papers

NM_000314.8

p.P38H

c.113C>A

11 papers

NM_000314.8

p.P38R

c.113C>G

13 papers

NM_000314.8

p.P38L

c.113C>T

1 paper

NM_000314.8

p.A39_D51del13

c.115_152del39

9 papers

NM_000314.8

p.A39T

c.115G>A

11 papers

NM_000314.8

p.A39P

c.115G>C

1 paper

NM_000314.8

p.A39insFs

c.116dupC

2 papers

NM_000314.8

p.A39fs

c.115_116fs

1 paper

NM_000314.8

p.A39S

c.115G>T