Varaico: Literature-Extracted Genetic Variants

RFC2

128 papers

RefSeq Summary

This gene encodes a member of the activator 1 small subunits family. The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins, prolifera...

Pfam Domains

DNA_pol3_delta2aa 3–91UCSCDNA polymerase III, delta subunit

AAAaa 72–193UCSCATPase family associated with various cellular activities (AAA)

Rep_fac_Caa 258–343UCSCReplication factor C C-terminal domain

Gene Aliases

HGNC Name

replication factor C subunit 2

HGNC Alias Symbols

A1; RFC40

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_181471.3

p.S30S

c.90C>T

Surrounding Variants

1 paper

NM_181471.3

p.E35K

c.103G>A

1 paper

NM_181471.3

p.S25S

c.75C>T

1 paper

NM_181471.3

p.A23G

c.68C>G

2 papers

NM_181471.3

p.P22P

c.66T>G

1 paper

NM_181471.3

p.D19N

c.55G>A

1 paper

NM_181471.3

p.E14Q

c.40G>C

1 paper

NM_181471.3

p.G11A

c.32G>C

1 paper

NM_181471.3

p.G9A

c.26G>C

1 paper

NM_181471.3

p.E4D

c.12G>C

1 paper

NM_181471.3

p.V3V

c.9G>A

1 paper

NM_181471.3

p.W38Splc

c.113+62C>T

1 paper

NM_181471.3

p.M1insFs

c.2dupT