Varaico: Literature-Extracted Genetic Variants

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

5 papers

NM_001174084.2

p.R57W

c.169C>T

Surrounding Variants

2 papers

NM_001174084.2

p.R55*

c.163C>T

1 paper

NM_001174084.2

p.V48_R50del3

c.142_149del9

1 paper

NM_001174084.2

p.R50C

c.148C>T

1 paper

NM_001174084.2

p.Q67delFs

c.199delG

1 paper

NM_001174084.2

p.Q67fs

c.199_200fs

1 paper

NM_001174084.2

p.H68Q

c.204T>A

1 paper

NM_001174084.2

p.S42N

c.125G>A

1 paper

NM_001174084.2

p.R96C

c.286C>T

1 paper

NM_001174084.2

p.R96H

c.287G>A

1 paper

NM_001174084.2

p.Q120Q

c.360G>A

1 paper

NM_001174084.2

p.F133F

c.399C>T

1 paper

NM_001174084.2

p.P169T

c.505C>A