Varaico: Literature-Extracted Genetic Variants

Gene:RBM5
Variant:p.*816fs

RBM5

100 papers

RefSeq Summary

This gene is a candidate tumor suppressor gene which encodes a nuclear RNA binding protein that is a component of the spliceosome A complex. The encoded protein plays a role in the induction of cell c...

Pfam Domains

RRM_1aa 100–171UCSCRNA recognition motif
Zn_ribbon_RanBPaa 181–210UCSCZn-finger in Ran binding protein and others
RRM_1aa 233–307UCSCRNA recognition motif
OCREaa 458–509UCSCOCRE domain
G-patchaa 743–787UCSCG-patch domain

Gene Aliases

HGNC Name

RNA binding motif protein 5

HGNC Alias Symbols

LUCA15; LUCA-15; H37

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005778.4
p.*816fs
c.2446_2447fs
Surrounding Variants
1 paper
NM_005778.4
p.*816R
c.2446T>A
1 paper
NM_005778.4
p.*816R
c.2446T>C
2 papers
NM_005778.4
p.*816insFs
c.2446_2447ins4
4 papers
NM_005778.4
p.*816delFs
c.2447_2448delGA
1 paper
NM_005778.4
p.*816del1
c.2446_2447delTGA
1 paper
NM_005778.4
p.R804W
c.2410C>T
1 paper
NM_005778.4
p.A796T
c.2386G>A
1 paper
NM_005778.4
p.S794L
c.2381C>T
1 paper
NM_005778.4
p.Y791C
c.2372A>G
1 paper
NM_005778.4
p.G729S
c.2185G>A
1 paper
NM_005778.4
p.E690*
c.2068G>T
2 papers
NM_005778.4
p.R681*
c.2041C>T
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