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

1 paper

NM_000314.8

p.P354S

c.1060C>T

Surrounding Variants

1 paper

NM_000314.8

p.P354_S355insTT

c.1060_1064ins6

1 paper

NM_000314.8

p.P354A

c.1060C>G

26 papers

NM_000314.8

p.P354Q

c.1061C>A

2 papers

NM_000314.8

p.P354R

c.1061C>G

12 papers

NM_000314.8

p.P354L

c.1061C>T

1 paper

NM_000314.8

p.E353E

c.1059G>A

1 paper

NM_000314.8

p.E353D

c.1059G>C

1 paper

NM_000314.8

p.E353D

c.1059G>T

1 paper

NM_000314.8

p.E353A

c.1058A>C

2 papers

NM_000314.8

p.E353G

c.1058A>G

1 paper

NM_000314.8

p.E353*

c.1057G>T

3 papers

NM_000314.8

p.S355L

c.1064C>T