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

1–12 of 160 variants

6 papers

NM_001282857.2

p.D208A

c.623A>C

5 papers

NM_001282857.2

p.D1137N

c.3409G>A

4 papers

NM_001282857.2

p.D206A

c.617A>C

3 papers

NM_001282857.2

p.I60T

c.179T>C

3 papers

NM_001282857.2

p.E176G

c.527A>G

3 papers

NM_001282857.2

p.E178Q

c.532G>C

3 papers

NM_001282857.2

p.F351fs

c.1051_1052fs

3 papers

NM_001282857.2

p.F351insFs

c.1052_1053insA

3 papers

NM_001282857.2

p.L1052_D1053insA

c.3154_3158ins3

2 papers

NM_001282857.2

p.L284F

c.852G>T

2 papers

NM_001282857.2

p.L284F

c.852G>C

2 papers

NM_001282857.2

p.H299Y

c.895C>T