Varaico: Literature-Extracted Genetic Variants

Gene:CHPF
Variant:p.R107H

CHPF

73 papers

Pfam Domains

CHGNaa 262–762UCSCChondroitin N-acetylgalactosaminyltransferase

Gene Aliases

HGNC Name

chondroitin polymerizing factor

HGNC Alias Symbols

CSS2; CHSY2; CHPF1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024536.6
p.R107H
c.320G>A
Surrounding Variants
1 paper
NM_024536.6
p.R147S
c.439C>A
1 paper
NM_024536.6
p.V149V
c.447G>C
1 paper
NM_024536.6
p.R157H
c.470G>A
1 paper
NM_024536.6
p.V165M
c.493G>A
1 paper
NM_024536.6
p.L177Q
c.530T>A
1 paper
NM_024536.6
p.E205V
c.614A>T
1 paper
NM_024536.6
p.P239P
c.717C>T
1 paper
NM_024536.6
p.Y242_C243delFs
c.726_727delAG
2 papers
NM_024536.6
p.G245R
c.733G>A
1 paper
NM_024536.6
p.S272R
c.814A>C
1 paper
NM_024536.6
p.S272R
c.816T>G
1 paper
NM_024536.6
p.S272R
c.816T>A
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