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

3 papers

NM_017647.4

p.S424C

c.1270A>T

Surrounding Variants

1 paper

NM_017647.4

p.Q430_L431Splc

c.1290+7C>T

1 paper

NM_017647.4

p.A381A

c.1143G>A

1 paper

NM_017647.4

p.L334F

c.1000C>T

1 paper

NM_017647.4

p.R317Q

c.950G>A

1 paper

NM_017647.4

p.R306M

c.917G>T

1 paper

NM_017647.4

p.E288K

c.862G>A

1 paper

NM_017647.4

p.A281T

c.841G>A

1 paper

NM_017647.4

p.R259Q

c.776G>A

1 paper

NM_017647.4

p.R251C

c.751C>T

1 paper

NM_017647.4

p.K233fs

c.697_698fs

1 paper

NM_017647.4

p.V227I

c.679G>A

1 paper

NM_017647.4

p.V220A

c.659T>C