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.H376insFs

c.1126_1127ins5

Surrounding Variants

1 paper

NM_000314.8

p.H376fs

c.1126_1127fs

1 paper

NM_000314.8

p.Y377_R378insFs

c.1131_1132dupTA

6 papers

NM_000314.8

p.D375N

c.1123G>A

2 papers

NM_000314.8

p.D375fs

c.1123_1124fs

1 paper

NM_000314.8

p.D375insFs

c.1123_1124insT

2 papers

NM_000314.8

p.D375fs

c.1123_1124fs

1 paper

NM_000314.8

p.Y377fs

c.1129_1130fs

4 papers

NM_000314.8

p.R378_Y379delFs

c.1133_1136del4

2 papers

NM_000314.8

p.Y377C

c.1130A>G

3 papers

NM_000314.8

p.Y377F

c.1130A>T

1 paper

NM_000314.8

p.P374delFs

c.1122delT

6 papers

NM_000314.8

p.R378fs

c.1132_1133fs