Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.K419_N420del1

CHST3

117 papers

RefSeq Summary

This gene encodes an enzyme which catalyzes the sulfation of chondroitin, a proteoglycan found in the extracellular matrix and most cells which is involved in cell migration and differentiation. Mutat...

Pfam Domains

Sulfotransfer_1aa 132–452UCSCSulfotransferase domain

Gene Aliases

HGNC Name

carbohydrate sulfotransferase 3

HGNC Alias Symbols

C6ST; C6ST1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004273.5
p.K419_N420del1
c.1257_1259delGAA
Surrounding Variants
1 paper
NM_004273.5
p.T417T
c.1251G>C
3 papers
NM_004273.5
p.R429C
c.1285C>T
1 paper
NM_004273.5
p.S431insFs
c.1291dupA
1 paper
NM_004273.5
p.S431fs
c.1291_1292fs
1 paper
NM_004273.5
p.P433L
c.1298C>T
1 paper
NM_004273.5
p.Q402*
c.1204C>T
1 paper
NM_004273.5
p.F434S
c.1301T>C
1 paper
NM_004273.5
p.W400_I401del2
c.1198_1202del6
1 paper
NM_004273.5
p.Q438*
c.1312C>T
4 papers
NM_004273.5
p.Q438Q
c.1314G>A
1 paper
NM_004273.5
p.V440_P446delFs
c.1318_1336del19
1 paper
NM_004273.5
p.V440M
c.1318G>A
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