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

3 papers

NM_001282857.2

p.F351insFs

c.1052_1053insA

Surrounding Variants

1 paper

NM_001282857.2

p.F351insFs

c.1051_1052insA

2 papers

NM_001282857.2

p.F351fs

c.1051_1052fs

1 paper

NM_001282857.2

p.F351Fs

c.1053delinsACFs

3 papers

NM_001282857.2

p.F351fs

c.1051_1052fs

1 paper

NM_001282857.2

p.E353G

c.1058A>G

1 paper

NM_001282857.2

p.R348Q

c.1043G>A

1 paper

NM_001282857.2

p.L358V

c.1072C>G

1 paper

NM_001282857.2

p.Y369F

c.1106A>T

1 paper

NM_001282857.2

p.E379V

c.1136A>T

1 paper

NM_001282857.2

p.A381T

c.1141G>A

1 paper

NM_001282857.2

p.E386K

c.1156G>A

1 paper

NM_001282857.2

p.K387N

c.1161G>C