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.Q396*

c.1186C>T

Surrounding Variants

4 papers

NM_000314.8

p.Q396E

c.1186C>G

1 paper

NM_000314.8

p.Q396P

c.1187A>C

2 papers

NM_000314.8

p.Q396R

c.1187A>G

1 paper

NM_000314.8

p.H397insFs

c.1189dupC

5 papers

NM_000314.8

p.H397Y

c.1189C>T

1 paper

NM_000314.8

p.D395H

c.1183G>C

1 paper

NM_000314.8

p.D395Y

c.1183G>T

1 paper

NM_000314.8

p.H397R

c.1190A>G

1 paper

NM_000314.8

p.T398P

c.1192A>C

6 papers

NM_000314.8

p.T398A

c.1192A>G

3 papers

NM_000314.8

p.T398S

c.1192A>T

4 papers

NM_000314.8

p.E394K

c.1180G>A