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.C83W

c.249C>G

Surrounding Variants

4 papers

NM_000314.8

p.C83*

c.249C>A

1 paper

NM_000314.8

p.R84_V85delFs

c.252_253delAG

1 paper

NM_000314.8

p.R84del1

c.250_251delAGA

1 paper

NM_000314.8

p.R84_V85insA

c.250_254ins3

3 papers

NM_000314.8

p.R84G

c.250A>G

6 papers

NM_000314.8

p.R84*

c.250A>T

1 paper

NM_000314.8

p.R84fs

c.250_251fs

1 paper

NM_000314.8

p.C83Y

c.248G>A

4 papers

NM_000314.8

p.C83S

c.248G>C

1 paper

NM_000314.8

p.C83F

c.248G>T

7 papers

NM_000314.8

p.R84K

c.251G>A

22 papers

NM_000314.8

p.R84T

c.251G>C