Varaico: Literature-Extracted Genetic Variants

Gene:MBTD1
Variant:p.K190K

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.K190K
c.570A>G
Surrounding Variants
1 paper
NM_017643.3
p.W193C
c.579G>T
1 paper
NM_017643.3
p.W193C
c.579G>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.P164P
c.492T>C
1 paper
NM_017643.3
p.E213Q
c.637G>C
1 paper
NM_017643.3
p.R246T
c.737G>C
1 paper
NM_017643.3
p.H250Y
c.748C>T
1 paper
NM_017643.3
p.K251N
c.753A>T
1 paper
NM_017643.3
p.K251N
c.753A>C
1 paper
NM_017643.3
p.K276_V277Splc
c.828+48G>T
1 paper
NM_017643.3
p.L299V
c.895T>G
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