Varaico: Literature-Extracted Genetic Variants

Gene:NINL
Variant:p.D182H

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
1 paper
NM_025176.6
p.D182H
c.544G>C
Surrounding Variants
1 paper
NM_025176.6
p.D182G
c.545A>G
1 paper
NM_025176.6
p.S180C
c.539C>G
1 paper
NM_025176.6
p.G173V
c.518G>T
1 paper
NM_025176.6
p.V210M
c.628G>A
1 paper
NM_025176.6
p.G173Splc
c.518-58G>A
1 paper
NM_025176.6
p.V228F
c.682G>T
1 paper
NM_025176.6
p.G232R
c.694G>C
1 paper
NM_025176.6
p.G232R
c.694G>A
1 paper
NM_025176.6
p.G251S
c.751G>A
1 paper
NM_025176.6
p.T275fs
c.823_824fs
1 paper
NM_025176.6
p.T275delFs
c.823_824delGT
1 paper
NM_025176.6
p.R276W
c.826C>T
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