Varaico: Literature-Extracted Genetic Variants

Gene:POLM
Variant:p.R323Splc

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.R323Splc
c.969-2A>C
Surrounding Variants
1 paper
NM_013284.4
p.R323S
c.969G>T
1 paper
NM_013284.4
p.R323S
c.969G>C
1 paper
NM_013284.4
p.K325fs
c.973_974fs
1 paper
NM_013284.4
p.K325insFs
c.974_975ins4
1 paper
NM_013284.4
p.L326V
c.976T>G
1 paper
NM_013284.4
p.L326L
c.978G>A
1 paper
NM_013284.4
p.F333F
c.999C>T
1 paper
NM_013284.4
p.L334I
c.1000C>A
1 paper
NM_013284.4
p.G341A
c.1022G>C
1 paper
NM_013284.4
p.R322H
c.965G>A
1 paper
NM_013284.4
p.V315V
c.945C>G
1 paper
NM_013284.4
p.V315I
c.943G>A
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