Varaico: Literature-Extracted Genetic Variants

Gene:CCDC141
Variant:p.Q507H

CCDC141

153 papers

Pfam Domains

Spectrinaa 40–129UCSCSpectrin repeat
I-setaa 1409–1498UCSCImmunoglobulin I-set domain

Gene Aliases

HGNC Name

coiled-coil domain containing 141

HGNC Alias Symbols

FLJ39502; CAMDI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_173648.4
p.Q507H
c.1521A>T
Surrounding Variants
4 papers
NM_173648.4
p.Q507H
c.1521A>C
1 paper
NM_173648.4
p.I497insFs
c.1491dupT
1 paper
NM_173648.4
p.A519S
c.1555G>T
1 paper
NM_173648.4
p.M522T
c.1565T>C
1 paper
NM_173648.4
p.E527K
c.1579G>A
1 paper
NM_173648.4
p.K469_V470Splc
c.1407+9G>A
1 paper
NM_173648.4
p.L543V
c.1627C>G
1 paper
NM_173648.4
p.R468Q
c.1403G>A
1 paper
NM_173648.4
p.R468W
c.1402C>T
1 paper
NM_173648.4
p.L549R
c.1646T>G
1 paper
NM_173648.4
p.T460insFs
c.1378dupA
1 paper
NM_173648.4
p.L459Q
c.1376T>A
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