Varaico: Literature-Extracted Genetic Variants

Gene:MBTD1
Variant:p.L92V

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
Selected Variant
1 paper
NM_017643.3
p.L92V
c.274T>G
Surrounding Variants
1 paper
NM_017643.3
p.G58R
c.172G>C
1 paper
NM_017643.3
p.G58R
c.172G>A
2 papers
NM_017643.3
p.L126V
c.376T>G
1 paper
NM_017643.3
p.I153T
c.458T>C
1 paper
NM_017643.3
p.D11Y
c.31G>T
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