Varaico: Literature-Extracted Genetic Variants

Gene:POLM
Variant:p.E170*

POLM

113 papers

Pfam Domains

HHH_8aa 151–222UCSCHelix-hairpin-helix domain
DNA_pol_lambd_faa 238–287UCSCFingers domain of DNA polymerase lambda
DNA_pol_lambd_faa 238–287UCSCFingers domain of DNA polymerase lambda
DNA_pol_B_palmaa 290–386UCSCDNA polymerase beta palm
DNA_pol_B_palmaa 290–386UCSCDNA polymerase beta palm
DNA_pol_B_thumbaa 430–493UCSCDNA polymerase beta thumb

Gene Aliases

HGNC Name

DNA polymerase mu

HGNC Alias Symbol

Tdt-N

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_013284.4
p.E170*
c.508G>T
Surrounding Variants
1 paper
NM_013284.4
p.E170K
c.508G>A
1 paper
NM_013284.4
p.E173K
c.517G>A
1 paper
NM_013284.4
p.A167T
c.499G>A
3 papers
NM_013284.4
p.G174S
c.520G>A
1 paper
NM_013284.4
p.E165V
c.494A>T
3 papers
NM_013284.4
p.R175H
c.524G>A
1 paper
NM_013284.4
p.A164G
c.491C>G
1 paper
NM_013284.4
p.L176R
c.527T>G
1 paper
NM_013284.4
p.T178A
c.532A>G
1 paper
NM_013284.4
p.T178N
c.533C>A
1 paper
NM_013284.4
p.E158E
c.474G>A
1 paper
NM_013284.4
p.S157_E158Splc
c.472-2A>G
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