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

34 papers

NM_000314.8

p.G127R

c.379G>A

Surrounding Variants

33 papers

NM_000314.8

p.G127R

c.379G>C

4 papers

NM_000314.8

p.G127*

c.379G>T

5 papers

NM_000314.8

p.K128_R130del3

c.382_389del9

38 papers

NM_000314.8

p.G127E

c.380G>A

3 papers

NM_000314.8

p.G127A

c.380G>C

18 papers

NM_000314.8

p.G127V

c.380G>T

1 paper

NM_000314.8

p.K128delFs

c.382_383delAA

1 paper

NM_000314.8

p.A126A

c.378T>C

1 paper

NM_000314.8

p.G127_G129delFs

c.381_385del5

1 paper

NM_000314.8

p.G127G

c.381A>G

21 papers

NM_000314.8

p.A126D

c.377C>A

20 papers

NM_000314.8

p.A126G

c.377C>G