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

1–12 of 77 variants

14 papers

NM_001174084.2

p.R438W

c.1312C>T

6 papers

NM_001174084.2

p.T221P

c.661A>C

5 papers

NM_001174084.2

p.R57W

c.169C>T

3 papers

NM_001174084.2

p.S288C

c.862A>T

3 papers

NM_001174084.2

p.A349V

c.1046C>T

3 papers

NM_001174084.2

p.D429D

c.1287C>T

2 papers

NM_001174084.2

p.G34E

c.101G>A

2 papers

NM_001174084.2

p.R55*

c.163C>T

2 papers

NM_001174084.2

p.P303S

c.907C>T

2 papers

NM_001174084.2

p.L337L

c.1011C>T

2 papers

NM_001174084.2

p.G356S

c.1066G>A

2 papers

NM_001174084.2

p.G376S

c.1126G>A