Varaico: Literature-Extracted Genetic Variants

Gene:MON2
Variant:p.P1317L

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.P1317L
c.3950C>T
Surrounding Variants
2 papers
NM_015026.3
p.E1325K
c.3973G>A
1 paper
NM_015026.3
p.A1338D
c.4013C>A
1 paper
NM_015026.3
p.H1286Q
c.3858C>A
1 paper
NM_015026.3
p.H1286Q
c.3858C>G
1 paper
NM_015026.3
p.A1243A
c.3729G>T
1 paper
NM_015026.3
p.E1217K
c.3649G>A
1 paper
NM_015026.3
p.I1215T
c.3644T>C
1 paper
NM_015026.3
p.I1199T
c.3596T>C
1 paper
NM_015026.3
p.G1137Splc
c.3410-4A>C
2 papers
NM_015026.3
p.I1385V
c.4153A>G
1 paper
NM_015026.3
p.T1114M
c.3341C>T
1 paper
NM_015026.3
p.A1107T
c.3319G>A
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