Varaico: Literature-Extracted Genetic Variants

SSB

270 papers

RefSeq Summary

The protein encoded by this gene is involved in diverse aspects of RNA metabolism, including binding and protecting poly(U) termini of nascent RNA polymerase III transcripts from exonuclease digestion...

Pfam Domains

Laaa 17–74UCSCLa domain

RRM_1aa 113–181UCSCRNA recognition motif

RRM_3aa 231–334UCSCRNA binding motif

Gene Aliases

HGNC Name

small RNA binding exonuclease protection factor La

HGNC Alias Symbols

LARP3; La; La/SSB

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003142.5

p.V168I

c.502G>A

Surrounding Variants

1 paper

NM_003142.5

p.F167V

c.499T>G

1 paper

NM_003142.5

p.K166N

c.498A>T

1 paper

NM_003142.5

p.A164D

c.491C>A

1 paper

NM_003142.5

p.Q173R

c.518A>G

1 paper

NM_003142.5

p.I161N

c.482T>A

1 paper

NM_003142.5

p.Y175*

c.525C>G

1 paper

NM_003142.5

p.L183L

c.549T>A

1 paper

NM_003142.5

p.K185R

c.554A>G

1 paper

NM_003142.5

p.K151E

c.451A>G

1 paper

NM_003142.5

p.V137V

c.411A>T

2 papers

NM_003142.5

p.Q136*

c.406C>T

1 paper

NM_003142.5

p.E129A

c.386A>C