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.I222I

c.666C>T

Surrounding Variants

1 paper

NM_181471.3

p.T224M

c.671C>T

1 paper

NM_181471.3

p.A225delins

c.675delinsG

1 paper

NM_181471.3

p.A225_Q226Fs

c.675_676delinsGFs

1 paper

NM_181471.3

p.D228N

c.682G>A

1 paper

NM_181471.3

p.D228A

c.683A>C

1 paper

NM_181471.3

p.Y213insFs

c.638_639insA

1 paper

NM_181471.3

p.E207K

c.619G>A

1 paper

NM_181471.3

p.L199F

c.595C>T

1 paper

NM_181471.3

p.R184L

c.551G>T

1 paper

NM_181471.3

p.A232V

c.695C>T

1 paper

NM_181471.3

p.T239S

c.715A>T

1 paper

NM_181471.3

p.K253E

c.757A>G