Varaico: Literature-Extracted Genetic Variants

LONRF3

37 papers

RefSeq Summary

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

Pfam Domains

zf-C3HC4aa 158–195UCSCZinc finger, C3HC4 type (RING finger)

zf-C3HC4_2aa 466–504UCSCZinc finger, C3HC4 type (RING finger)

LON_substr_bdgaa 555–752UCSCATP-dependent protease La (LON) substrate-binding domain

Gene Aliases

HGNC Name

LON peptidase N-terminal domain and ring finger 3

HGNC Previous Symbol

RNF127

Papers

RefSeq ID

Protein change

DNA change

1–12 of 43 variants

1 paper

NM_001031855.3

p.A14A

c.42T>C

1 paper

NM_001031855.3

p.E25K

c.73G>A

1 paper

NM_001031855.3

p.E44V

c.131A>T

1 paper

NM_001031855.3

p.A76T

c.226G>A

1 paper

NM_001031855.3

p.S79insFs

c.235_236ins17

1 paper

NM_001031855.3

p.P126R

c.377C>G

1 paper

NM_001031855.3

p.G142_A145delFs

c.424_434del11

1 paper

NM_001031855.3

p.G142fs

c.424_425fs

1 paper

NM_001031855.3

p.G142fs

c.424_425fs

1 paper

NM_001031855.3

p.A146A

c.438T>C

1 paper

NM_001031855.3

p.R184S

c.550C>A

1 paper

NM_001031855.3

p.R190P

c.569G>C