Varaico: Literature-Extracted Genetic Variants

Gene:CEMIP
Variant:p.E1147K

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.E1147K
c.3439G>A
Surrounding Variants
1 paper
NM_001293298.2
p.E1149Q
c.3445G>C
1 paper
NM_001293298.2
p.G1136_L1137insFs
c.3408_3409insG
3 papers
NM_001293298.2
p.P1169A
c.3505C>G
2 papers
NM_001293298.2
p.H1209Y
c.3625C>T
1 paper
NM_001293298.2
p.Q1247K
c.3739C>A
1 paper
NM_001293298.2
p.T1262R
c.3785C>G
1 paper
NM_001293298.2
p.R1265M
c.3794G>T
1 paper
NM_001293298.2
p.V1109I
c.3325G>A
2 papers
NM_001293298.2
p.R1099H
c.3296G>A
1 paper
NM_001293298.2
p.L1069R
c.3206T>G
1 paper
NM_001293298.2
p.T1060M
c.3179C>T
1 paper
NM_001293298.2
p.T1054P
c.3160A>C
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