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

4 papers

NM_000314.8

p.R41I

c.122G>T

Surrounding Variants

3 papers

NM_000314.8

p.R41K

c.122G>A

2 papers

NM_000314.8

p.R41T

c.122G>C

1 paper

NM_000314.8

p.R41fs

c.121_122fs

2 papers

NM_000314.8

p.R41S

c.123A>C

13 papers

NM_000314.8

p.R41G

c.121A>G

13 papers

NM_000314.8

p.R41*

c.121A>T

2 papers

NM_000314.8

p.R41S

c.123A>T

1 paper

NM_000314.8

p.R41delFs

c.122delG

2 papers

NM_000314.8

p.R41fs

c.121_122fs

2 papers

NM_000314.8

p.E40D

c.120A>C

1 paper

NM_000314.8

p.E40E

c.120A>G

9 papers

NM_000314.8

p.E40D

c.120A>T