Varaico: Literature-Extracted Genetic Variants

Gene:ZCRB1
Variant:p.K136K

ZCRB1

23 papers

RefSeq Summary

Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-t...

Pfam Domains

RRM_1aa 12–82UCSCRNA recognition motif
zf-CCHCaa 105–122UCSCZinc knuckle

Gene Aliases

HGNC Name

zinc finger CCHC-type and RNA binding motif containing 1

HGNC Alias Symbols

MADP-1; MADP1; RBM36; ZCCHC19; SNRNP31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_033114.4
p.K136K
c.408A>G
Surrounding Variants
1 paper
NM_033114.4
p.K137K
c.411G>A
1 paper
NM_033114.4
p.K139K
c.417A>G
1 paper
NM_033114.4
p.K140*
c.418A>T
1 paper
NM_033114.4
p.K141fs
c.421_422fs
1 paper
NM_033114.4
p.E129*
c.385G>T
1 paper
NM_033114.4
p.R128C
c.382C>T
1 paper
NM_033114.4
p.E127K
c.379G>A
1 paper
NM_033114.4
p.K184fs
c.550_551fs
1 paper
NM_033114.4
p.Y101*
c.303C>A
1 paper
NM_033114.4
p.Y101S
c.302A>C
1 paper
NM_033114.4
p.R97Q
c.290G>A
1 paper
NM_033114.4
p.I87fs
c.259_260fs
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