Varaico: Literature-Extracted Genetic Variants

FTSJ3

68 papers

RefSeq Summary

Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence simil...

Pfam Domains

FtsJaa 24–200UCSCFtsJ-like methyltransferase

DUF3381aa 231–400UCSCRibosomal RNA methyltransferase Spb1, DUF3381

Spb1_Caa 608–840UCSCSpb1 C-terminal domain

Gene Aliases

HGNC Name

FtsJ RNA 2'-O-methyltransferase 3

HGNC Alias Symbol

SPB1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_017647.4

p.R728Q

c.2183G>A

Surrounding Variants

1 paper

NM_017647.4

p.K722E

c.2164A>G

1 paper

NM_017647.4

p.P702L

c.2105C>T

1 paper

NM_017647.4

p.R776Q

c.2327G>A

1 paper

NM_017647.4

p.L785delFs

c.2355delG

1 paper

NM_017647.4

p.K788E

c.2362A>G

1 paper

NM_017647.4

p.G792G

c.2376C>T

1 paper

NM_017647.4

p.E794fs

c.2380_2381fs

1 paper

NM_017647.4

p.E794_K795delFs

c.2382_2385del4

1 paper

NM_017647.4

p.R837H

c.2510G>A

1 paper

NM_017647.4

p.H844insFs

c.2530_2531insA

1 paper

NM_017647.4

p.H844fs

c.2530_2531fs

1 paper

NM_017647.4

p.R846Q

c.2537G>A