Varaico: Literature-Extracted Genetic Variants

Gene:MON2

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
1–12 of 76 variants
3 papers
NM_015026.3
p.S19N
c.56G>A
2 papers
NM_015026.3
p.E183V
c.548A>T
2 papers
NM_015026.3
p.A213A
c.639T>A
2 papers
NM_015026.3
p.A548T
c.1642G>A
2 papers
NM_015026.3
p.G846V
c.2537G>T
2 papers
NM_015026.3
p.E1325K
c.3973G>A
2 papers
NM_015026.3
p.I1385V
c.4153A>G
1 paper
NM_015026.3
p.G3R
c.7G>C
1 paper
NM_015026.3
p.E37Q
c.109G>C
1 paper
NM_015026.3
p.T54T
c.162T>C
1 paper
NM_015026.3
p.E55K
c.163G>A
1 paper
NM_015026.3
p.S65T
c.193T>A
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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."