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.D48E

c.144T>A

Surrounding Variants

1 paper

NM_002945.5

p.G49R

c.145G>A

1 paper

NM_002945.5

p.G49R

c.145G>C

1 paper

NM_002945.5

p.L50del1

c.148_149delTTG

1 paper

NM_002945.5

p.S47I

c.140G>T

1 paper

NM_002945.5

p.N51D

c.151A>G

1 paper

NM_002945.5

p.M46T

c.137T>C

1 paper

NM_002945.5

p.T52delFs

c.155_156delCT

1 paper

NM_002945.5

p.L53fs

c.157_158fs

1 paper

NM_002945.5

p.L44P

c.131T>C

1 paper

NM_002945.5

p.S54A

c.160T>G

1 paper

NM_002945.5

p.S54F

c.161C>T

1 paper

NM_002945.5

p.Y42C

c.125A>G