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.G1124C

c.3370G>T

Surrounding Variants

1 paper

NM_001282857.2

p.G1121S

c.3361G>A

1 paper

NM_001282857.2

p.D1100N

c.3298G>A

1 paper

NM_001282857.2

p.P1082H

c.3245C>A

5 papers

NM_001282857.2

p.D1137N

c.3409G>A

1 paper

NM_001282857.2

p.V1142_L1143insFs

c.3426_3427insA

1 paper

NM_001282857.2

p.E1062_C1067insFs

c.3185_3201dup17

1 paper

NM_001282857.2

p.V1064D

c.3191T>A

1 paper

NM_001282857.2

p.V1064F

c.3190G>T

3 papers

NM_001282857.2

p.L1052_D1053insA

c.3154_3158ins3

1 paper

NM_001282857.2

p.I1051_L1052insA

c.3151_3155ins3

1 paper

NM_001282857.2

p.R1044H

c.3131G>A

1 paper

NM_001282857.2

p.K1035del1

c.3103_3104delTTT