Varaico: Literature-Extracted Genetic Variants

Gene:RBM12B
Variant:p.H722D

RBM12B

48 papers

Pfam Domains

RRM_11aa 5–90UCSCRRM domain
RRM_11aa 157–244UCSCRRM domain
RRM_1aa 286–354UCSCRNA recognition motif
RRM_1aa 402–471UCSCRNA recognition motif
RRM_11aa 927–999UCSCRRM domain

Gene Aliases

HGNC Name

RNA binding motif protein 12B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001377960.1
p.H722D
c.2164C>G
Surrounding Variants
1 paper
NM_001377960.1
p.R725K
c.2174G>A
1 paper
NM_001377960.1
p.P726S
c.2176C>T
1 paper
NM_001377960.1
p.E729K
c.2185G>A
1 paper
NM_001377960.1
p.E704D
c.2112G>T
1 paper
NM_001377960.1
p.E704D
c.2112G>C
1 paper
NM_001377960.1
p.R684M
c.2051G>T
1 paper
NM_001377960.1
p.H762P
c.2285A>C
1 paper
NM_001377960.1
p.R677Q
c.2030G>A
1 paper
NM_001377960.1
p.H762_H770del0
c.2286_2309del24
1 paper
NM_001377960.1
p.P768_P776del0
c.2304_2327del24
1 paper
NM_001377960.1
p.E664K
c.1990G>A
1 paper
NM_001377960.1
p.P782A
c.2344C>G
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