Varaico: Literature-Extracted Genetic Variants

Gene:POLM
Variant:p.S293F

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.S293F
c.878C>T
Surrounding Variants
1 paper
NM_013284.4
p.D294A
c.881A>C
1 paper
NM_013284.4
p.A297V
c.890C>T
1 paper
NM_013284.4
p.D285G
c.854A>G
1 paper
NM_013284.4
p.E303Q
c.907G>C
1 paper
NM_013284.4
p.H282H
c.846C>T
1 paper
NM_013284.4
p.A309T
c.925G>A
1 paper
NM_013284.4
p.G312R
c.934G>C
1 paper
NM_013284.4
p.G312R
c.934G>A
1 paper
NM_013284.4
p.V315I
c.943G>A
1 paper
NM_013284.4
p.V315V
c.945C>G
1 paper
NM_013284.4
p.R322H
c.965G>A
1 paper
NM_013284.4
p.R323Splc
c.969-2A>C
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