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.D52E

c.156T>A

Surrounding Variants

2 papers

NM_000314.8

p.D52D

c.156T>C

1 paper

NM_000314.8

p.D52E

c.156T>G

1 paper

NM_000314.8

p.V53_R55insFs

c.158_164dup7

4 papers

NM_000314.8

p.V54del1

c.160_162delGTA

2 papers

NM_000314.8

p.D52A

c.155A>C

4 papers

NM_000314.8

p.D52G

c.155A>G

2 papers

NM_000314.8

p.D52V

c.155A>T

5 papers

NM_000314.8

p.V53I

c.157G>A

2 papers

NM_000314.8

p.V53L

c.157G>C

1 paper

NM_000314.8

p.V53fs

c.157_158fs

2 papers

NM_000314.8

p.V53L

c.157G>T

9 papers

NM_000314.8

p.D52N

c.154G>A