Varaico: Literature-Extracted Genetic Variants

TUT1

54 papers

RefSeq Summary

This gene encodes a nucleotidyl transferase that functions as both a terminal uridylyltransferase and a nuclear poly(A) polymerase. The encoded enzyme specifically adds and removes nucleotides from th...

Pfam Domains

zf-metaa 16–40UCSCZinc-finger of C2H2 type

zf-metaa 54–78UCSCZinc-finger of C2H2 type

RRM_1aa 58–122UCSCRNA recognition motif

RRM_1aa 96–160UCSCRNA recognition motif

MTPAP-like_centralaa 197–293UCSCPoly(A) RNA polymerase, mitochondrial-like, central palm domain

MTPAP-like_centralaa 349–439UCSCPoly(A) RNA polymerase, mitochondrial-like, central palm domain

Gene Aliases

HGNC Name

terminal uridylyl transferase 1, U6 snRNA-specific

HGNC Previous Symbol

RBM21

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_022830.3

p.C18*

c.54C>A

Surrounding Variants

1 paper

NM_022830.3

p.C18S

c.53G>C

1 paper

NM_022830.3

p.C18S

c.52T>A

1 paper

NM_022830.3

p.R17R

c.51C>A

1 paper

NM_022830.3

p.C21S

c.61T>A

1 paper

NM_022830.3

p.C21S

c.62G>C

1 paper

NM_022830.3

p.G14V

c.41G>T

1 paper

NM_022830.3

p.L11L

c.31C>T

1 paper

NM_022830.3

p.D32H

c.94G>C

1 paper

NM_022830.3

p.G37D

c.110G>A

1 paper

NM_022830.3

p.L43V

c.127C>G

1 paper

NM_022830.3

p.L55insFs

c.164_165insG

1 paper

NM_022830.3

p.R56Q

c.167G>A