Varaico: Literature-Extracted Genetic Variants

RPA1

391 papers

RefSeq Summary

This gene encodes the largest subunit of the heterotrimeric Replication Protein A (RPA) complex, which binds to single-stranded DNA (ssDNA), forming a nucleoprotein complex that plays an important rol...

Pfam Domains

Rep-A_Naa 5–104UCSCReplication factor-A protein 1, N-terminal domain

tRNA_anti-codonaa 197–285UCSCOB-fold nucleic acid binding domain

REPA_OB_2aa 305–402UCSCReplication protein A OB domain

Rep_fac-A_Caa 461–606UCSCReplication factor-A C terminal domain

Gene Aliases

HGNC Name

replication protein A1

HGNC Alias Symbols

REPA1; RPA70; HSSB; RF-A; RP-A

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002945.5

p.R216L

c.647G>T

Surrounding Variants

1 paper

NM_002945.5

p.R216Q

c.647G>A

1 paper

NM_002945.5

p.E218insFs

c.652_653insG

1 paper

NM_002945.5

p.S215A

c.643T>G

2 papers

NM_002945.5

p.E218A

c.653A>C

1 paper

NM_002945.5

p.G219_L221del3

c.655_662del9

1 paper

NM_002945.5

p.K220M

c.659A>T

5 papers

NM_002945.5

p.L221P

c.662T>C

1 paper

NM_002945.5

p.R210H

c.629G>A

1 paper

NM_002945.5

p.R210C

c.628C>T

1 paper

NM_002945.5

p.S223A

c.667T>G

1 paper

NM_002945.5

p.E225A

c.674A>C

1 paper

NM_002945.5

p.E225G

c.674A>G