Varaico: Literature-Extracted Genetic Variants

Gene:MON1B
Variant:p.S182S

MON1B

31 papers

Pfam Domains

Fuz_longin_1aa 46–123UCSCFirst Longin domain of FUZ, MON1 and HPS1
Fuz_longin_1aa 110–232UCSCFirst Longin domain of FUZ, MON1 and HPS1
Fuz_longin_2aa 272–370UCSCSecond Longin domain of FUZ, MON1 and HPS1
Fuz_longin_3aa 409–516UCSCThird Longin domain of FUZ, MON1 and HPS1

Gene Aliases

HGNC Name

MON1 vesicular trafficking associated B

HGNC Alias Symbols

SAND2; HSRG1; KIAA0872

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014940.4
p.S182S
c.546A>G
Surrounding Variants
1 paper
NM_014940.4
p.Q181Q
c.543G>A
1 paper
NM_014940.4
p.E189fs
c.565_566fs
1 paper
NM_014940.4
p.A204V
c.611C>T
1 paper
NM_014940.4
p.R227S
c.679C>A
1 paper
NM_014940.4
p.L299L
c.895C>T
1 paper
NM_014940.4
p.D333N
c.997G>A
1 paper
NM_014940.4
p.D333A
c.998A>C
1 paper
NM_014940.4
p.A362V
c.1085C>T
1 paper
NM_014940.4
p.R381C
c.1141C>T
1 paper
NM_014940.4
p.L383F
c.1147C>T
1 paper
NM_014940.4
p.Y400C
c.1199A>G
1 paper
NM_014940.4
p.Q403K
c.1207C>A
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