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.V275_I280del0

c.823_840del18

Surrounding Variants

25 papers

NM_000314.8

p.W274*

c.822G>A

7 papers

NM_000314.8

p.W274C

c.822G>C

7 papers

NM_000314.8

p.W274C

c.822G>T

1 paper

NM_000314.8

p.V275delFs

c.823_824delGT

29 papers

NM_000314.8

p.W274*

c.821G>A

2 papers

NM_000314.8

p.V275I

c.823G>A

4 papers

NM_000314.8

p.W274S

c.821G>C

3 papers

NM_000314.8

p.V275L

c.823G>C

6 papers

NM_000314.8

p.V275fs

c.823_824fs

1 paper

NM_000314.8

p.V275insFs

c.824dupT

21 papers

NM_000314.8

p.W274L

c.821G>T

3 papers

NM_000314.8

p.V275L

c.823G>T