Varaico: Literature-Extracted Genetic Variants

Gene:CEMIP
Variant:p.H783R

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
1 paper
NM_001293298.2
p.H783R
c.2348A>G
Surrounding Variants
2 papers
NM_001293298.2
p.H783Y
c.2347C>T
1 paper
NM_001293298.2
p.R782T
c.2345G>C
1 paper
NM_001293298.2
p.R797H
c.2390G>A
1 paper
NM_001293298.2
p.N741S
c.2222A>G
1 paper
NM_001293298.2
p.A818D
c.2453C>A
1 paper
NM_001293298.2
p.S819I
c.2456G>T
1 paper
NM_001293298.2
p.G840G
c.2520C>T
1 paper
NM_001293298.2
p.V845M
c.2533G>A
2 papers
NM_001293298.2
p.G870D
c.2609G>A
1 paper
NM_001293298.2
p.Y715C
c.2144A>G
1 paper
NM_001293298.2
p.V708M
c.2122G>A
1 paper
NM_001293298.2
p.E691_E692Splc
c.2073+8G>A
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