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

1 paper

NM_001282857.2

p.R1163Q

c.3488G>A

Surrounding Variants

1 paper

NM_001282857.2

p.G1161C

c.3481G>T

1 paper

NM_001282857.2

p.N1171I

c.3512A>T

1 paper

NM_001282857.2

p.A1187_P1193del0

c.3559_3579del21

1 paper

NM_001282857.2

p.W1237G

c.3709T>G

1 paper

NM_001282857.2

p.K1245N

c.3735G>T

1 paper

NM_001282857.2

p.K1245N

c.3735G>C

1 paper

NM_001282857.2

p.T1252A

c.3754A>G

1 paper

NM_001282857.2

p.K1256_G1257Splc

c.3768+16T>G

1 paper

NM_001282857.2

p.V1142_L1143insFs

c.3426_3427insA

5 papers

NM_001282857.2

p.D1137N

c.3409G>A

1 paper

NM_001282857.2

p.G1124C

c.3370G>T

1 paper

NM_001282857.2

p.G1121S

c.3361G>A