Varaico: Literature-Extracted Genetic Variants

Gene:MON2
Variant:p.A845V

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.A845V
c.2534C>T
Surrounding Variants
2 papers
NM_015026.3
p.G846V
c.2537G>T
1 paper
NM_015026.3
p.T817N
c.2450C>A
1 paper
NM_015026.3
p.K788_E789Splc
c.2365-48C>T
1 paper
NM_015026.3
p.Q862E
c.2584C>G
1 paper
NM_015026.3
p.Q862*
c.2584C>T
1 paper
NM_015026.3
p.P868P
c.2604G>A
1 paper
NM_015026.3
p.E886Q
c.2656G>C
1 paper
NM_015026.3
p.I922M
c.2766A>G
1 paper
NM_015026.3
p.R923*
c.2767C>T
1 paper
NM_015026.3
p.M780I
c.2340G>A
1 paper
NM_015026.3
p.M780I
c.2340G>C
1 paper
NM_015026.3
p.M780I
c.2340G>T
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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."