Varaico: Literature-Extracted Genetic Variants

XRN1

138 papers

RefSeq Summary

This gene encodes a member of the 5'-3' exonuclease family. The encoded protein may be involved in replication-dependent histone mRNA degradation, and interacts directly with the enhancer of mRNA-deca...

Pfam Domains

XRN_Naa 1–227UCSCXRN 5'-3' exonuclease N-terminus

XRN_Maa 272–609UCSCXrn1 helical domain

XRN1_D1aa 646–845UCSCExoribonuclease Xrn1 D1 domain

XRN1_D2_D3aa 848–1081UCSCExoribonuclease Xrn1 D2/D3 domain

SH3_12aa 1101–1171UCSCXrn1 SH3-like domain

Gene Aliases

HGNC Name

5'-3' exoribonuclease 1

HGNC Alias Symbol

SEP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001282857.2

p.H299Y

c.895C>T

Surrounding Variants

1 paper

NM_001282857.2

p.P295L

c.884C>T

1 paper

NM_001282857.2

p.G290fs

c.868_869fs

2 papers

NM_001282857.2

p.L284F

c.852G>T

2 papers

NM_001282857.2

p.L284F

c.852G>C

1 paper

NM_001282857.2

p.T316A

c.946A>G

2 papers

NM_001282857.2

p.P319S

c.955C>T

1 paper

NM_001282857.2

p.E267K

c.799G>A

1 paper

NM_001282857.2

p.F262L

c.786T>A

1 paper

NM_001282857.2

p.R255G

c.763A>G

1 paper

NM_001282857.2

p.C239R

c.715T>C

1 paper

NM_001282857.2

p.R237W

c.709C>T

1 paper

NM_001282857.2

p.R237W

c.709C>T