Varaico: Literature-Extracted Genetic Variants

Gene:RAB5IF

RAB5IF

79 papers

Pfam Domains

EMC6aa 44–119UCSCEMC6
EMC6aa 44–119UCSCEMC6

Gene Aliases

HGNC Name

RAB5 interacting factor

HGNC Previous Symbol

C20orf24

Papers
RefSeq ID
Protein change
DNA change
1–12 of 27 variants
3 papers
NM_018840.5
p.W25*
c.75G>A
2 papers
NM_018840.5
p.W25*
c.74G>A
1 paper
NM_018840.5
p.M1I
c.3G>A
1 paper
NM_018840.5
p.G3A
c.8G>C
1 paper
NM_018840.5
p.R5Q
c.14G>A
1 paper
NM_018840.5
p.G18W
c.52G>T
1 paper
NM_018840.5
p.L20L
c.60C>A
1 paper
NM_018840.5
p.E36D
c.108G>T
1 paper
NM_018840.5
p.D37N
c.109G>A
1 paper
NM_018840.5
p.K38_D39Splc
c.115-6C>T
1 paper
NM_018840.5
p.I45M
c.135C>G
1 paper
NM_018840.5
p.F48L
c.142T>C
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