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

1–12 of 4521 variants

440 papers

NM_000314.8

p.R130Q

c.389G>A

423 papers

NM_000314.8

p.C124S

c.370T>A

421 papers

NM_000314.8

p.C124S

c.371G>C

393 papers

NM_000314.8

p.R130*

c.388C>T

372 papers

NM_000314.8

p.G129E

c.386G>A

358 papers

NM_000314.8

p.R233*

c.697C>T

252 papers

NM_000314.8

p.R130G

c.388C>G

244 papers

NM_000314.8

p.R335*

c.1003C>T

217 papers

NM_000314.8

p.R173C

c.517C>T

147 papers

NM_000314.8

p.R173H

c.518G>A

140 papers

NM_000314.8

p.G129R

c.385G>A

138 papers

NM_000314.8

p.G129R

c.385G>C