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.R378K

c.1133G>A

Surrounding Variants

1 paper

NM_000314.8

p.R378I

c.1133G>T

6 papers

NM_000314.8

p.R378fs

c.1132_1133fs

1 paper

NM_000314.8

p.R378R

c.1132A>C

1 paper

NM_000314.8

p.R378S

c.1134A>C

1 paper

NM_000314.8

p.R378*

c.1132A>T

1 paper

NM_000314.8

p.R378S

c.1134A>T

3 papers

NM_000314.8

p.R378fs

c.1132_1133fs

1 paper

NM_000314.8

p.Y379N

c.1135T>A

2 papers

NM_000314.8

p.Y379insFs

c.1135_1136insA

9 papers

NM_000314.8

p.Y379C

c.1136A>G

2 papers

NM_000314.8

p.Y377C

c.1130A>G

3 papers

NM_000314.8

p.Y377F

c.1130A>T