Varaico: Literature-Extracted Genetic Variants

Gene:MON1B
Variant:p.P63P

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.P63P
c.189G>A
Surrounding Variants
1 paper
NM_014940.4
p.P60A
c.178C>G
1 paper
NM_014940.4
p.C87Y
c.260G>A
1 paper
NM_014940.4
p.D102N
c.304G>A
1 paper
NM_014940.4
p.E103G
c.308A>G
1 paper
NM_014940.4
p.R109W
c.325C>T
1 paper
NM_014940.4
p.S128C
c.382A>T
1 paper
NM_014940.4
p.E130*
c.388G>T
1 paper
NM_014940.4
p.L132L
c.394C>T
1 paper
NM_014940.4
p.G137S
c.409G>A
1 paper
NM_014940.4
p.Q181Q
c.543G>A
1 paper
NM_014940.4
p.S182S
c.546A>G
1 paper
NM_014940.4
p.E189fs
c.565_566fs
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