Varaico: Literature-Extracted Genetic Variants

Gene:TENT5C
Variant:p.N249H

TENT5C

170 papers

Pfam Domains

NTP_transf_7aa 17–336UCSCNucleotidyltransferase

Gene Aliases

HGNC Name

terminal nucleotidyltransferase 5C

HGNC Previous Symbol

FAM46C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017709.4
p.N249H
c.745A>C
Surrounding Variants
1 paper
NM_017709.4
p.L250R
c.749T>G
1 paper
NM_017709.4
p.L251fs
c.751_752fs
1 paper
NM_017709.4
p.Y247N
c.739T>A
1 paper
NM_017709.4
p.Y247D
c.739T>G
1 paper
NM_017709.4
p.V252_R253ins8
c.754_758ins24
1 paper
NM_017709.4
p.L245I
c.733C>A
1 paper
NM_017709.4
p.L245F
c.733C>T
1 paper
NM_017709.4
p.R253W
c.757C>T
2 papers
NM_017709.4
p.R253Q
c.758G>A
1 paper
NM_017709.4
p.R253P
c.758G>C
1 paper
NM_017709.4
p.D254G
c.761A>G
2 papers
NM_017709.4
p.F255L
c.763T>C
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