Varaico: Literature-Extracted Genetic Variants

Gene:RBM22
Variant:p.F252L

RBM22

21 papers

RefSeq Summary

This gene encodes an RNA binding protein. The encoded protein may play a role in cell division and may be involved in pre-mRNA splicing. Related pseudogenes exist on chromosomes 6, 7, 9, 13, 16, 18, a...

Pfam Domains

STL11_Naa 21–140UCSCSTL11, N-terminal
zf-CCCH_RBM22aa 159–186UCSCRBM22 CCCH zinc finger domain
RRM_1aa 234–299UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 22

HGNC Alias Symbols

FLJ10290; ZC3H16; fSAP47

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018047.3
p.F252L
c.756C>G
Surrounding Variants
1 paper
NM_018047.3
p.F252L
c.756C>A
1 paper
NM_018047.3
p.F252L
c.754T>C
1 paper
NM_018047.3
p.V263F
c.787G>T
1 paper
NM_018047.3
p.T318I
c.953C>T
1 paper
NM_018047.3
p.P336H
c.1007C>A
1 paper
NM_018047.3
p.P337R
c.1010C>G
2 papers
NM_018047.3
p.A345T
c.1033G>A
1 paper
NM_018047.3
p.P367L
c.1100C>T
1 paper
NM_018047.3
p.G370G
c.1110C>T
1 paper
NM_018047.3
p.V236I
c.706G>A
1 paper
NM_018047.3
p.I371_A372insFs
c.1113_1114ins29
1 paper
NM_018047.3
p.A372D
c.1115C>A
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