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

3 papers

NM_000314.8

p.T398S

c.1192A>T

Surrounding Variants

1 paper

NM_000314.8

p.T398P

c.1192A>C

6 papers

NM_000314.8

p.T398A

c.1192A>G

1 paper

NM_000314.8

p.T398R

c.1193C>G

1 paper

NM_000314.8

p.T398T

c.1194A>C

1 paper

NM_000314.8

p.H397R

c.1190A>G

1 paper

NM_000314.8

p.T398T

c.1194A>T

1 paper

NM_000314.8

p.Q399_V403del5

c.1195_1208del15

1 paper

NM_000314.8

p.Q399E

c.1195C>G

5 papers

NM_000314.8

p.H397Y

c.1189C>T

3 papers

NM_000314.8

p.Q399*

c.1195C>T

1 paper

NM_000314.8

p.I400_K402del3

c.1198_1205del9

1 paper

NM_000314.8

p.Q399P

c.1196A>C