Varaico: Literature-Extracted Genetic Variants

Gene:POLL
Variant:p.R573W

POLL

108 papers

RefSeq Summary

This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymer...

Pfam Domains

HHH_8aa 251–322UCSCHelix-hairpin-helix domain
DNA_pol_lambd_faa 336–384UCSCFingers domain of DNA polymerase lambda
DNA_pol_B_palmaa 386–496UCSCDNA polymerase beta palm
DNA_pol_B_thumbaa 502–574UCSCDNA polymerase beta thumb

Gene Aliases

HGNC Name

DNA polymerase lambda

HGNC Previous Names

polymerase (DNA directed), lambda; polymerase (DNA) lambda

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001174084.2
p.R573W
c.1717C>T
Surrounding Variants
1 paper
NM_001174084.2
p.R549*
c.1645C>T
1 paper
NM_001174084.2
p.R538W
c.1612C>T
1 paper
NM_001174084.2
p.R517Q
c.1550G>A
1 paper
NM_001174084.2
p.R514L
c.1541G>T
1 paper
NM_001174084.2
p.A500T
c.1498G>A
1 paper
NM_001174084.2
p.E498K
c.1492G>A
1 paper
NM_001174084.2
p.R487L
c.1460G>T
1 paper
NM_001174084.2
p.P480S
c.1438C>T
1 paper
NM_001174084.2
p.Q471L
c.1412A>T
1 paper
NM_001174084.2
p.G455W
c.1363G>T
1 paper
NM_001174084.2
p.R452Q
c.1355G>A
1 paper
NM_001174084.2
p.R446L
c.1337G>T
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