Varaico: Literature-Extracted Genetic Variants

Gene:NT5DC1
Variant:p.S377fs

NT5DC1

25 papers

RefSeq Summary

While the exact function of the protein encoded by this gene is not known, it belongs to the 5'(3')-deoxyribonucleotidase family. [provided by RefSeq, May 2010].

Pfam Domains

5_nucleotidaa 1–372UCSC5' nucleotidase family

Gene Aliases

HGNC Name

5'-nucleotidase domain containing 1

HGNC Previous Symbol

NT5C2L1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_152729.3
p.S377fs
c.1129_1130fs
Surrounding Variants
1 paper
NM_152729.3
p.S377delFs
c.1131delT
3 papers
NM_152729.3
p.S372P
c.1114T>C
1 paper
NM_152729.3
p.E387fs
c.1159_1160fs
1 paper
NM_152729.3
p.W328*
c.984G>A
1 paper
NM_152729.3
p.W328*
c.983G>A
1 paper
NM_152729.3
p.S326R
c.978T>A
1 paper
NM_152729.3
p.S326R
c.978T>G
1 paper
NM_152729.3
p.S326R
c.976A>C
1 paper
NM_152729.3
p.G302D
c.905G>A
1 paper
NM_152729.3
p.T301P
c.901A>C
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