POLE c.22C>T ;(p.R8W)

Variant ID: 12-133263880-G-A

NM_006231.2(POLE):c.22C>T;(p.R8W)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Nodular fasciitis: a comprehensive, time-correlated investigation of 17 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Sápi, Zoltán Z; Lippai, Zoltán Z; Papp, Gergő G; Hegyi, Lajos L; Sápi, Johanna J; Dezső, Katalin K; Szuhai, Károly K
Publication Date: 2021-12

Variant appearance in text: POLE: 22C>T; R8C
PubMed Link: 34381187
Variant Present in the following documents:
  • 41379_2021_883_MOESM1_ESM.pdf
View BVdb publication page



Nodular fasciitis: a comprehensive, time-correlated investigation of 17 cases.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Sápi, Zoltán Z; Lippai, Zoltán Z; Papp, Gergő G; Hegyi, Lajos L; Sápi, Johanna J; Dezső, Katalin K; Szuhai, Károly K
Publication Date: 2021-12

Variant appearance in text: POLE: 22C>T; R8C
PubMed Link: 34381187
Variant Present in the following documents:
  • 41379_2021_883_MOESM1_ESM.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: POLE: 22C>T; R8W
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page