Varaico: Literature-Extracted Genetic Variants

Gene:MON2
Variant:p.L1447P

MON2

69 papers

Pfam Domains

DCBaa 8–184UCSCMon2/Sec7/BIG1-like, dimerisation and cyclophilin-binding domain
Sec7-like_HUSaa 212–385UCSCMon2/Sec7/BIG1-like, HUS domain
Sec7-like_HDSaa 849–931UCSCMon2/Sec7/BIG1-like, HDS
Mon2_Caa 934–1708UCSCC-terminal region of Mon2 protein

Gene Aliases

HGNC Name

MON2 regulator of endosome-to-Golgi trafficking

HGNC Alias Symbol

KIAA1040

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_015026.3
p.L1447P
c.4340T>C
Surrounding Variants
1 paper
NM_015026.3
p.E1411fs
c.4231_4232fs
2 papers
NM_015026.3
p.I1385V
c.4153A>G
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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."