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

4 papers

NM_000314.8

p.R172G

c.514A>G

Surrounding Variants

8 papers

NM_000314.8

p.R172fs

c.514_515fs

5 papers

NM_000314.8

p.R172W

c.514A>T

2 papers

NM_000314.8

p.R172fs

c.514_515fs

6 papers

NM_000314.8

p.R172K

c.515G>A

2 papers

NM_000314.8

p.Q171Q

c.513G>A

12 papers

NM_000314.8

p.Q171H

c.513G>C

1 paper

NM_000314.8

p.R172T

c.515G>C

3 papers

NM_000314.8

p.Q171_R172insFs

c.513_514insA

12 papers

NM_000314.8

p.Q171H

c.513G>T

3 papers

NM_000314.8

p.R172M

c.515G>T

1 paper

NM_000314.8

p.R172delFs

c.514delA

9 papers

NM_000314.8

p.Q171P

c.512A>C