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.T363A

c.1087A>G

Surrounding Variants

2 papers

NM_000314.8

p.T363N

c.1088C>A

3 papers

NM_000314.8

p.T363I

c.1088C>T

1 paper

NM_000314.8

p.S364_Y377del14

c.1090_1130del42

5 papers

NM_000314.8

p.S362L

c.1085C>T

4 papers

NM_000314.8

p.S362P

c.1084T>C

1 paper

NM_000314.8

p.S364P

c.1090T>C

5 papers

NM_000314.8

p.S362A

c.1084T>G

1 paper

NM_000314.8

p.S364Y

c.1091C>A

5 papers

NM_000314.8

p.S364C

c.1091C>G

1 paper

NM_000314.8

p.S361R

c.1083T>A

1 paper

NM_000314.8

p.S361R

c.1083T>G

2 papers

NM_000314.8

p.S361N

c.1082G>A