Varaico: Literature-Extracted Genetic Variants

Gene:POLL
Variant:p.A242G

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.A242G
c.725C>G
Surrounding Variants
1 paper
NM_001174084.2
p.A249V
c.746C>T
1 paper
NM_001174084.2
p.N251S
c.752A>G
1 paper
NM_001174084.2
p.E261G
c.782A>G
6 papers
NM_001174084.2
p.T221P
c.661A>C
1 paper
NM_001174084.2
p.A266G
c.797C>G
1 paper
NM_001174084.2
p.A276S
c.826G>T
1 paper
NM_001174084.2
p.T204A
c.610A>G
1 paper
NM_001174084.2
p.K273_N284del0
c.819_851del33
3 papers
NM_001174084.2
p.S288C
c.862A>T
1 paper
NM_001174084.2
p.S295L
c.884C>T
1 paper
NM_001174084.2
p.T188A
c.562A>G
1 paper
NM_001174084.2
p.P175S
c.523C>T
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