Varaico: Literature-Extracted Genetic Variants

Gene:RBM27
Variant:p.K816fs

RBM27

65 papers

Pfam Domains

PWIaa 7–77UCSCPWI domain
zf-CCCHaa 274–300UCSCZinc finger C-x8-C-x5-C-x3-H type (and similar)
RRM_1aa 602–668UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 27

HGNC Alias Symbols

KIAA1311; ARRS1; Psc1; ZC3H20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_018989.2
p.K816fs
c.2446_2447fs
Surrounding Variants
1 paper
NM_018989.2
p.Q817fs
c.2449_2450fs
2 papers
NM_018989.2
p.K814fs
c.2440_2441fs
1 paper
NM_018989.2
p.Q817_E818Splc
c.2451+1G>A
1 paper
NM_018989.2
p.K814insFs
c.2440dupA
3 papers
NM_018989.2
p.K814delFs
c.2440delA
1 paper
NM_018989.2
p.H807P
c.2420A>C
1 paper
NM_018989.2
p.E858K
c.2572G>A
1 paper
NM_018989.2
p.T894K
c.2681C>A
1 paper
NM_018989.2
p.D904G
c.2711A>G
1 paper
NM_018989.2
p.R958H
c.2873G>A
1 paper
NM_018989.2
p.D775D
c.2325T>C
1 paper
NM_018989.2
p.D775N
c.2323G>A
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