Varaico: Literature-Extracted Genetic Variants

POLR2A

358 papers

RefSeq Summary

This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain compose...

Pfam Domains

RNA_pol_Rpb1_1aa 15–354UCSCRNA polymerase Rpb1, domain 1

RNA_pol_Rpb1_2aa 356–521UCSCRNA polymerase Rpb1, domain 2

RNA_pol_Rpb1_3aa 524–692UCSCRNA polymerase Rpb1, domain 3

RNA_pol_Rpb1_4aa 717–823UCSCRNA polymerase Rpb1, domain 4

RNA_pol_Rpb1_5aa 830–1427UCSCRNA polymerase Rpb1, domain 5

RNA_pol_Rpb1_6aa 896–1079UCSCRNA polymerase Rpb1, domain 6

Gene Aliases

HGNC Name

RNA polymerase II subunit A

HGNC Previous Symbol

POLR2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000937.5

p.Q700*

c.2098C>T

Surrounding Variants

1 paper

NM_000937.5

p.D701N

c.2101G>A

1 paper

NM_000937.5

p.K710R

c.2129A>G

1 paper

NM_000937.5

p.V713I

c.2137G>A

1 paper

NM_000937.5

p.E724K

c.2170G>A

1 paper

NM_000937.5

p.P729P

c.2187A>G

1 paper

NM_000937.5

p.W679_L680insAG

c.2035_2039ins6

3 papers

NM_000937.5

p.Q735*

c.2203C>T

2 papers

NM_000937.5

p.T736M

c.2207C>T

1 paper

NM_000937.5

p.F668F

c.2004C>T

2 papers

NM_000937.5

p.Y669_S670del1

c.2006_2008delACT

1 paper

NM_000937.5

p.A748T

c.2242G>A

1 paper

NM_000937.5

p.A748S

c.2242G>T