Varaico: Literature-Extracted Genetic Variants

Gene:POLM
Variant:p.E223K

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.E223K
c.667G>A
Surrounding Variants
1 paper
NM_013284.4
p.C222Y
c.665G>A
1 paper
NM_013284.4
p.G220G
c.660A>C
8 papers
NM_013284.4
p.G220A
c.659G>C
1 paper
NM_013284.4
p.L217L
c.651G>A
1 paper
NM_013284.4
p.E232K
c.694G>A
1 paper
NM_013284.4
p.T236S
c.706A>T
1 paper
NM_013284.4
p.M237T
c.710T>C
1 paper
NM_013284.4
p.H208R
c.623A>G
1 paper
NM_013284.4
p.F205S
c.614T>C
1 paper
NM_013284.4
p.F205L
c.613T>C
1 paper
NM_013284.4
p.Q200_G201ins1
c.600_601insGAT
2 papers
NM_013284.4
p.G201R
c.601G>A
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