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.E43delFs

c.127delG

Surrounding Variants

8 papers

NM_000314.8

p.E43K

c.127G>A

3 papers

NM_000314.8

p.E43Q

c.127G>C

5 papers

NM_000314.8

p.E43fs

c.127_128fs

12 papers

NM_000314.8

p.E43*

c.127G>T

2 papers

NM_000314.8

p.E43delFs

c.129delA

1 paper

NM_000314.8

p.E43fs

c.127_128fs

1 paper

NM_000314.8

p.E43_Y46del0

c.129_137del9

2 papers

NM_000314.8

p.L42H

c.125T>A

11 papers

NM_000314.8

p.L42P

c.125T>C

29 papers

NM_000314.8

p.L42R

c.125T>G

1 paper

NM_000314.8

p.E43_I50delFs

c.127_149del23

2 papers

NM_000314.8

p.E43A

c.128A>C