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.E608Q

c.1822G>C

Surrounding Variants

1 paper

NM_017647.4

p.S598F

c.1793C>T

1 paper

NM_017647.4

p.E590K

c.1768G>A

1 paper

NM_017647.4

p.Q550*

c.1648C>T

1 paper

NM_017647.4

p.S534G

c.1600A>G

1 paper

NM_017647.4

p.G533C

c.1597G>T

1 paper

NM_017647.4

p.E505K

c.1513G>A

1 paper

NM_017647.4

p.E504K

c.1510G>A

1 paper

NM_017647.4

p.H660fs

c.1978_1979fs

1 paper

NM_017647.4

p.S677F

c.2030C>T

1 paper

NM_017647.4

p.L487P

c.1460T>C

2 papers

NM_017647.4

p.D449H

c.1345G>C

1 paper

NM_017647.4

p.P702L

c.2105C>T