Varaico: Literature-Extracted Genetic Variants

Gene:NINL
Variant:p.R142H

NINL

134 papers

Pfam Domains

EF-hand_7aa 198–261UCSCEF-hand domain pair
Ninein_midaa 311–487UCSCNinein middle domain
Ninein_long_CCaa 616–810UCSCNinein long Coiled-coil domain
Ninein_long_CCaa 616–810UCSCNinein long Coiled-coil domain

Gene Aliases

HGNC Name

ninein like

HGNC Alias Symbols

KIAA0980; NLP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_025176.6
p.R142H
c.425G>A
Surrounding Variants
1 paper
NM_025176.6
p.R142C
c.424C>T
1 paper
NM_025176.6
p.P128L
c.383C>T
1 paper
NM_025176.6
p.V127M
c.379G>A
1 paper
NM_025176.6
p.T122A
c.364A>G
1 paper
NM_025176.6
p.A121T
c.361G>A
1 paper
NM_025176.6
p.D119A
c.356A>C
1 paper
NM_025176.6
p.L117P
c.350T>C
1 paper
NM_025176.6
p.I98N
c.293T>A
1 paper
NM_025176.6
p.A93Splc
c.278-1G>T
1 paper
NM_025176.6
p.N166I
c.497A>T
1 paper
NM_025176.6
p.L168F
c.504A>T
1 paper
NM_025176.6
p.S75T
c.223T>A
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