Varaico: Literature-Extracted Genetic Variants

Gene:RNF44
Variant:p.P186fs

RNF44

28 papers

RefSeq Summary

The protein encoded by this gene contains a RING finger, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. [provi...

Pfam Domains

zf-RING_2aa 378–421UCSCRing finger domain

Gene Aliases

HGNC Name

ring finger protein 44

HGNC Alias Symbol

KIAA1100

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014901.5
p.P186fs
c.556_557fs
Surrounding Variants
1 paper
NM_014901.5
p.P188R
c.563C>G
2 papers
NM_014901.5
p.Q193fs
c.577_578fs
1 paper
NM_014901.5
p.Q193delFs
c.577delG
1 paper
NM_014901.5
p.Q193fs
c.577_578fs
1 paper
NM_014901.5
p.R217Q
c.650G>A
1 paper
NM_014901.5
p.N220D
c.658A>G
1 paper
NM_014901.5
p.P122delFs
c.366delA
1 paper
NM_014901.5
p.T115T
c.345G>A
1 paper
NM_014901.5
p.L107M
c.319C>A
1 paper
NM_014901.5
p.V105V
c.315C>T
1 paper
NM_014901.5
p.R276T
c.827G>C
1 paper
NM_014901.5
p.Q285*
c.853C>T
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