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

61 papers

NM_000314.8

p.T383A

c.1147A>G

Surrounding Variants

2 papers

NM_000314.8

p.T383P

c.1147A>C

1 paper

NM_000314.8

p.T383S

c.1147A>T

1 paper

NM_000314.8

p.T383S

c.1148C>G

4 papers

NM_000314.8

p.T383I

c.1148C>T

1 paper

NM_000314.8

p.T383_P391del9

c.1147_1172del27

3 papers

NM_000314.8

p.T382S

c.1145C>G

3 papers

NM_000314.8

p.T382I

c.1145C>T

2 papers

NM_000314.8

p.T382P

c.1144A>C

61 papers

NM_000314.8

p.T382A

c.1144A>G

3 papers

NM_000314.8

p.T382S

c.1144A>T

2 papers

NM_000314.8

p.T382delFs

c.1145delC

4 papers

NM_000314.8

p.D384N

c.1150G>A