Varaico: Literature-Extracted Genetic Variants

Gene:SRCAP
Variant:p.K2386R
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SRCAP

NM_006662.3:p.K2386R

Associated Papers

De novo SRCAP variants cause developmental and epileptic encephalopathy and the phenotypic spectrum.

Liang XY et al.

Epilepsia, 2025

Clonal Structures of Regionally Synchronous Gastric Adenomas and Carcinomas.

Jung SH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018

29945994 (PubMed )
Supplement: 10780432ccr180345-sup-196274_3_supp_4826357_pjb33v.xlsx › Table_S2

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L24
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."