Varaico: Literature-Extracted Genetic Variants

Gene:MBTD1

MBTD1

31 papers

Pfam Domains

zf-FCS_1aa 52–82UCSCZinc finger, FCS-type
MBTaa 177–249UCSCmbt repeat
MBTaa 289–355UCSCmbt repeat
MBTaa 388–460UCSCmbt repeat
MBTaa 496–564UCSCmbt repeat

Gene Aliases

HGNC Name

mbt domain containing 1

HGNC Alias Symbols

SA49P01; FLJ20055

Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
2 papers
NM_017643.3
p.L126V
c.376T>G
1 paper
NM_017643.3
p.D11Y
c.31G>T
1 paper
NM_017643.3
p.G58R
c.172G>C
1 paper
NM_017643.3
p.G58R
c.172G>A
1 paper
NM_017643.3
p.L92V
c.274T>G
1 paper
NM_017643.3
p.I153T
c.458T>C
1 paper
NM_017643.3
p.P164P
c.492T>C
1 paper
NM_017643.3
p.S173*
c.518C>G
1 paper
NM_017643.3
p.S173*
c.518C>A
1 paper
NM_017643.3
p.K190K
c.570A>G
1 paper
NM_017643.3
p.W193C
c.579G>T
1 paper
NM_017643.3
p.W193C
c.579G>C
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