Varaico: Literature-Extracted Genetic Variants

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

1–12 of 24 variants

2 papers

NM_018047.3

p.A345T

c.1033G>A

1 paper

NM_018047.3

p.G91Splc

c.271+775T>C

1 paper

NM_018047.3

p.K114T

c.341A>C

1 paper

NM_018047.3

p.S126P

c.376T>C

1 paper

NM_018047.3

p.D129G

c.386A>G

1 paper

NM_018047.3

p.Q196*

c.586C>T

1 paper

NM_018047.3

p.R201H

c.602G>A

1 paper

NM_018047.3

p.V236I

c.706G>A

1 paper

NM_018047.3

p.F252L

c.754T>C

1 paper

NM_018047.3

p.F252L

c.756C>G

1 paper

NM_018047.3

p.F252L

c.756C>A

1 paper

NM_018047.3

p.V263F

c.787G>T