Varaico: Literature-Extracted Genetic Variants

Gene:CEMIP
Variant:p.S40R

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.S40R
c.120C>A
Surrounding Variants
1 paper
NM_001293298.2
p.S40R
c.120C>G
1 paper
NM_001293298.2
p.S40R
c.118A>C
1 paper
NM_001293298.2
p.I85I
c.255T>A
1 paper
NM_001293298.2
p.K86R
c.257A>G
1 paper
NM_001293298.2
p.R97W
c.289C>T
1 paper
NM_001293298.2
p.P134L
c.401C>T
1 paper
NM_001293298.2
p.P136T
c.406C>A
1 paper
NM_001293298.2
p.L151V
c.451C>G
1 paper
NM_001293298.2
p.L151F
c.451C>T
1 paper
NM_001293298.2
p.E181_S183delFs
c.541_548del8
4 papers
NM_001293298.2
p.R187C
c.559C>T
3 papers
NM_001293298.2
p.R187H
c.560G>A
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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."