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.Q307*

c.919C>T

Surrounding Variants

1 paper

NM_181471.3

p.K304*

c.910A>T

1 paper

NM_181471.3

p.F300C

c.899T>G

2 papers

NM_181471.3

p.D276D

c.828C>T

1 paper

NM_181471.3

p.K264E

c.790A>G

1 paper

NM_181471.3

p.V263delins

c.787_789delinsTTG

1 paper

NM_181471.3

p.V263L

c.787G>T

1 paper

NM_181471.3

p.V263L

c.787G>C

1 paper

NM_181471.3

p.E257A

c.770A>C

1 paper

NM_181471.3

p.D256D

c.768C>T

1 paper

NM_181471.3

p.K253E

c.757A>G

1 paper

NM_181471.3

p.T239S

c.715A>T

1 paper

NM_181471.3

p.A232V

c.695C>T