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.N356H

c.1066A>C

Surrounding Variants

1 paper

NM_000314.8

p.N356fs

c.1066_1067fs

6 papers

NM_000314.8

p.N356D

c.1066A>G

1 paper

NM_000314.8

p.N356Y

c.1066A>T

1 paper

NM_000314.8

p.N356_P357delFs

c.1067_1070del4

2 papers

NM_000314.8

p.N356S

c.1067A>G

1 paper

NM_000314.8

p.N356I

c.1067A>T

3 papers

NM_000314.8

p.S355L

c.1064C>T

4 papers

NM_000314.8

p.P357T

c.1069C>A

7 papers

NM_000314.8

p.P357S

c.1069C>T

2 papers

NM_000314.8

p.P357Q

c.1070C>A

1 paper

NM_000314.8

p.P357_E358insFs

c.1071_1072insA

3 papers

NM_000314.8

p.P357L

c.1070C>T