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.Q97E

c.289C>G

Surrounding Variants

2 papers

NM_000314.8

p.Q97K

c.289C>A

1 paper

NM_000314.8

p.Q97fs

c.289_290fs

23 papers

NM_000314.8

p.Q97*

c.289C>T

2 papers

NM_000314.8

p.Q97fs

c.289_290fs

1 paper

NM_000314.8

p.Q97P

c.290A>C

3 papers

NM_000314.8

p.Q97R

c.290A>G

1 paper

NM_000314.8

p.Q97L

c.290A>T

1 paper

NM_000314.8

p.Q97delFs

c.289delC

13 papers

NM_000314.8

p.P96Q

c.287C>A

12 papers

NM_000314.8

p.P96R

c.287C>G

18 papers

NM_000314.8

p.P96L

c.287C>T

1 paper

NM_000314.8

p.Q97_E99del3

c.289_296del9