Varaico: Literature-Extracted Genetic Variants

RBM28

84 papers

RefSeq Summary

The protein encoded by this gene is a specific nucleolar component of the spliceosomal small nuclear ribonucleoprotein (snRNP)complexes . It specifically associates with U1, U2, U4, U5, and U6 small n...

Pfam Domains

RRM_1aa 6–74UCSCRNA recognition motif

RRM_1aa 116–185UCSCRNA recognition motif

RRM_1aa 337–411UCSCRNA recognition motif

Gene Aliases

HGNC Name

RNA binding motif protein 28

HGNC Alias Symbols

FLJ10377; NOP4

Papers

RefSeq ID

Protein change

DNA change

1–12 of 68 variants

8 papers

NM_018077.3

p.L351P

c.1052T>C

3 papers

NM_018077.3

p.D758G

c.2273A>G

2 papers

NM_018077.3

p.V418A

c.1253T>C

2 papers

NM_018077.3

p.N561N

c.1683C>T

2 papers

NM_018077.3

p.S712L

c.2135C>T

1 paper

NM_018077.3

p.M1delins

c.2delinsA

1 paper

NM_018077.3

p.F7S

c.20T>C

1 paper

NM_018077.3

p.G9D

c.26G>A

1 paper

NM_018077.3

p.S25G

c.73A>G

1 paper

NM_018077.3

p.Q26*

c.76C>T

1 paper

NM_018077.3

p.E38E

c.114A>G

1 paper

NM_018077.3

p.K39R

c.116A>G