Varaico: Literature-Extracted Genetic Variants

Gene:POLM
Variant:p.F46L

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.F46L
c.138C>A
Surrounding Variants
1 paper
NM_013284.4
p.F46L
c.138C>G
1 paper
NM_013284.4
p.F46L
c.136T>C
1 paper
NM_013284.4
p.T48S
c.142A>T
1 paper
NM_013284.4
p.R44R
c.132G>A
1 paper
NM_013284.4
p.G49G
c.147C>G
1 paper
NM_013284.4
p.R43C
c.127C>T
1 paper
NM_013284.4
p.M39I
c.117G>C
1 paper
NM_013284.4
p.S53S
c.159C>G
1 paper
NM_013284.4
p.R38C
c.112C>T
1 paper
NM_013284.4
p.F56C
c.167T>G
1 paper
NM_013284.4
p.F56Y
c.167T>A
1 paper
NM_013284.4
p.V58_L59insG
c.172_176ins3
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