Varaico: Literature-Extracted Genetic Variants

Gene:CEMIP
Variant:p.S635F

CEMIP

89 papers

Pfam Domains

G8aa 43–165UCSCG8 domain
ILEIaa 187–277UCSCInterleukin-like EMT inducer
Mucin2_WxxWaa 325–403UCSCMucin-2 protein WxxW repeating region
Mucin2_WxxWaa 430–516UCSCMucin-2 protein WxxW repeating region
CEMIP_beta-helaa 523–737UCSCCEMIP beta-helix
CEMIP_Xaa 1001–1185UCSCCEMIP domain X

Gene Aliases

HGNC Name

cell migration inducing hyaluronidase 1

HGNC Previous Symbol

KIAA1199

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001293298.2
p.S635F
c.1904C>T
Surrounding Variants
1 paper
NM_001293298.2
p.G636R
c.1906G>A
1 paper
NM_001293298.2
p.G636R
c.1906G>C
1 paper
NM_001293298.2
p.T637T
c.1911C>A
1 paper
NM_001293298.2
p.R643C
c.1927C>T
1 paper
NM_001293298.2
p.K649M
c.1946A>T
1 paper
NM_001293298.2
p.M650I
c.1950G>A
1 paper
NM_001293298.2
p.M650I
c.1950G>C
1 paper
NM_001293298.2
p.M650I
c.1950G>T
1 paper
NM_001293298.2
p.S655F
c.1964C>T
1 paper
NM_001293298.2
p.G610D
c.1829G>A
1 paper
NM_001293298.2
p.A686V
c.2057C>T
1 paper
NM_001293298.2
p.A686A
c.2058C>T
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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."