Varaico: Literature-Extracted Genetic Variants

FARSB

87 papers

RefSeq Summary

This gene encodes a highly conserved enzyme that belongs to the aminoacyl-tRNA synthetase class IIc subfamily. This enzyme comprises the regulatory beta subunits that form a tetramer with two catalyti...

Pfam Domains

PhetRS_B1aa 1–90UCSCPhe-tRNA synthetase beta subunit B1 domain

B3_4aa 106–279UCSCB3/4 domain

B5aa 308–374UCSCtRNA synthetase B5 domain

tRNA_synthFbetaaa 377–585UCSCPhenylalanyl tRNA synthetase beta chain CLM domain

Gene Aliases

HGNC Name

phenylalanyl-tRNA synthetase subunit beta

HGNC Previous Symbol

FARSLB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005687.5

p.R401Q

c.1202G>A

Surrounding Variants

1 paper

NM_005687.5

p.R401*

c.1201C>T

1 paper

NM_005687.5

p.R401R

c.1201C>A

1 paper

NM_005687.5

p.G373A

c.1118G>C

1 paper

NM_005687.5

p.C362R

c.1084T>C

1 paper

NM_005687.5

p.A356T

c.1066G>A

1 paper

NM_005687.5

p.P352S

c.1054C>T

1 paper

NM_005687.5

p.S338L

c.1013C>T

1 paper

NM_005687.5

p.L336*

c.1007T>A

1 paper

NM_005687.5

p.V318G

c.953T>G

2 papers

NM_005687.5

p.R305Q

c.914G>A

1 paper

NM_005687.5

p.A436V

c.1307C>T

1 paper

NM_005687.5

p.Q448_V449Splc

c.1344+39T>G