Varaico: Literature-Extracted Genetic Variants

Gene:CIMAP1D
Variant:p.R188H

CIMAP1D

24 papers

Pfam Domains

SHIPPO-rptaa 85–116UCSCSperm-tail PG-rich repeat
SHIPPO-rptaa 121–152UCSCSperm-tail PG-rich repeat
SHIPPO-rptaa 201–231UCSCSperm-tail PG-rich repeat
SHIPPO-rptaa 237–267UCSCSperm-tail PG-rich repeat

Gene Aliases

HGNC Name

CIMAP1 family member D

HGNC Previous Symbols

C19orf19; ODF3L2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_182577.3
p.R188H
c.563G>A
Surrounding Variants
2 papers
NM_182577.3
p.T189P
c.565A>C
3 papers
NM_182577.3
p.A192P
c.574G>C
1 paper
NM_182577.3
p.A192fs
c.574_575fs
1 paper
NM_182577.3
p.R193P
c.578G>C
1 paper
NM_182577.3
p.R193H
c.578G>A
1 paper
NM_182577.3
p.T223insFs
c.667dupA
1 paper
NM_182577.3
p.T223fs
c.667_668fs
1 paper
NM_182577.3
p.R229W
c.685C>T
1 paper
NM_182577.3
p.V135A
c.404T>C
2 papers
NM_182577.3
p.A242T
c.724G>A
1 paper
NM_182577.3
p.S265S
c.795G>A
1 paper
NM_182577.3
p.Y107H
c.319T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."