Varaico: Literature-Extracted Genetic Variants

Gene:MON2
Variant:p.A213A

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
2 papers
NM_015026.3
p.A213A
c.639T>A
Surrounding Variants
1 paper
NM_015026.3
p.S205C
c.614C>G
1 paper
NM_015026.3
p.R203K
c.608G>A
1 paper
NM_015026.3
p.L223P
c.668T>C
1 paper
NM_015026.3
p.N255S
c.764A>G
1 paper
NM_015026.3
p.P258S
c.772C>T
1 paper
NM_015026.3
p.D184N
c.550G>A
2 papers
NM_015026.3
p.E183V
c.548A>T
1 paper
NM_015026.3
p.V173G
c.518T>G
1 paper
NM_015026.3
p.F155L
c.465C>A
1 paper
NM_015026.3
p.F155L
c.465C>G
1 paper
NM_015026.3
p.F155L
c.463T>C
1 paper
NM_015026.3
p.E116_S118del0
c.346_354del9
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