Varaico: Literature-Extracted Genetic Variants

Gene:CEMIP
Variant:p.E1320Splc

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.E1320Splc
c.3958+6G>A
Surrounding Variants
1 paper
NM_001293298.2
p.D1313E
c.3939C>G
1 paper
NM_001293298.2
p.V1298A
c.3893T>C
1 paper
NM_001293298.2
p.V1325G
c.3974T>G
1 paper
NM_001293298.2
p.F1327V
c.3979T>G
1 paper
NM_001293298.2
p.V1356_K1357del1
c.4068_4070delGAA
1 paper
NM_001293298.2
p.R1265M
c.3794G>T
1 paper
NM_001293298.2
p.T1262R
c.3785C>G
1 paper
NM_001293298.2
p.Q1247K
c.3739C>A
2 papers
NM_001293298.2
p.H1209Y
c.3625C>T
3 papers
NM_001293298.2
p.P1169A
c.3505C>G
1 paper
NM_001293298.2
p.E1149Q
c.3445G>C
1 paper
NM_001293298.2
p.E1147K
c.3439G>A
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