Varaico: Literature-Extracted Genetic Variants

Gene:CEP126
Variant:p.E405Q

CEP126

61 papers

Pfam Domains

K1377aa 105–1081UCSCSusceptibility to monomelic amyotrophy

Gene Aliases

HGNC Name

centrosomal protein 126

HGNC Previous Symbol

KIAA1377

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_020802.4
p.E405Q
c.1213G>C
Surrounding Variants
1 paper
NM_020802.4
p.V378L
c.1132G>C
1 paper
NM_020802.4
p.V378L
c.1132G>T
1 paper
NM_020802.4
p.N365T
c.1094A>C
1 paper
NM_020802.4
p.A360T
c.1078G>A
1 paper
NM_020802.4
p.P350_S351del2
c.1048_1052del6
1 paper
NM_020802.4
p.T314I
c.941C>T
2 papers
NM_020802.4
p.K501del1
c.1501_1502delAAA
1 paper
NM_020802.4
p.H308L
c.923A>T
1 paper
NM_020802.4
p.I505_K506delFs
c.1513_1517del5
1 paper
NM_020802.4
p.K512E
c.1534A>G
1 paper
NM_020802.4
p.C295S
c.884G>C
1 paper
NM_020802.4
p.C295S
c.883T>A
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