Varaico: Literature-Extracted Genetic Variants

Gene:RTCB
Variant:p.H250Y

RTCB

40 papers

Pfam Domains

RtcBaa 68–505UCSCtRNA-splicing ligase RtcB

Gene Aliases

HGNC Name

RNA 2',3'-cyclic phosphate and 5'-OH ligase

HGNC Previous Symbol

C22orf28

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014306.5
p.H250Y
c.748C>T
Surrounding Variants
1 paper
NM_014306.5
p.I248F
c.742A>T
1 paper
NM_014306.5
p.G247A
c.740G>C
1 paper
NM_014306.5
p.E236K
c.706G>A
1 paper
NM_014306.5
p.H267N
c.799C>A
1 paper
NM_014306.5
p.L216H
c.647T>A
1 paper
NM_014306.5
p.K212delFs
c.636delC
1 paper
NM_014306.5
p.K212fs
c.634_635fs
1 paper
NM_014306.5
p.Q201Q
c.603G>A
1 paper
NM_014306.5
p.E188K
c.562G>A
1 paper
NM_014306.5
p.V176delFs
c.526delC
1 paper
NM_014306.5
p.V288A
c.863T>C
1 paper
NM_014306.5
p.D290V
c.869A>T
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