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.V242L

c.724G>T

Surrounding Variants

3 papers

NM_002945.5

p.K244E

c.730A>G

8 papers

NM_002945.5

p.E240K

c.718G>A

1 paper

NM_002945.5

p.F245L

c.733T>C

1 paper

NM_002945.5

p.F245L

c.735C>A

1 paper

NM_002945.5

p.F245L

c.735C>G

1 paper

NM_002945.5

p.A237G

c.710C>G

1 paper

NM_002945.5

p.P247A

c.739C>G

1 paper

NM_002945.5

p.A237T

c.709G>A

1 paper

NM_002945.5

p.R234*

c.700C>T

1 paper

NM_002945.5

p.K253_V254Splc

c.760-1G>T

1 paper

NM_002945.5

p.Y256Y

c.768T>C

1 paper

NM_002945.5

p.S258A

c.772T>G