Varaico: Literature-Extracted Genetic Variants

Gene:TTC39B

TTC39B

22 papers

Pfam Domains

Iml2-TPR_39aa 13–463UCSCIml2/Tetratricopeptide repeat protein 39
Iml2-TPR_39aa 140–598UCSCIml2/Tetratricopeptide repeat protein 39
TPR_8aa 493–517UCSCTetratricopeptide repeat

Gene Aliases

HGNC Name

tetratricopeptide repeat domain 39B

HGNC Previous Symbol

C9orf52

Papers
RefSeq ID
Protein change
DNA change
1 paper
NM_152574.3
p.M1K
c.2T>A
1 paper
NM_152574.3
p.A33V
c.98C>T
1 paper
NM_152574.3
p.S36G
c.106A>G
1 paper
NM_152574.3
p.C42S
c.125G>C
1 paper
NM_152574.3
p.L77L
c.231G>A
1 paper
NM_152574.3
p.Q113R
c.338A>G
1 paper
NM_152574.3
p.T117T
c.351C>T
1 paper
NM_152574.3
p.E166K
c.496G>A
1 paper
NM_152574.3
p.A293delFs
c.877_878delGC
1 paper
NM_152574.3
p.H295delFs
c.883_884delTG
1 paper
NM_152574.3
p.L524F
c.1570C>T
1 paper
NM_152574.3
p.E596A
c.1787A>C
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