Varaico: Literature-Extracted Genetic Variants

Gene:KCP

KCP

35 papers

Pfam Domains

VWCaa 138–188UCSCvon Willebrand factor type C domain
VWCaa 138–192UCSCvon Willebrand factor type C domain
VWC2L_2ndaa 192–247UCSCVWC2L-like domain
VWC2L_2ndaa 196–251UCSCVWC2L-like domain
VWCaa 255–311UCSCvon Willebrand factor type C domain
VWC2L_2ndaa 310–364UCSCVWC2L-like domain

Gene Aliases

HGNC Name

kielin cysteine rich BMP regulator

HGNC Previous Symbol

CRIM2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
1 paper
NM_001366122.1
p.G16delFs
c.46delC
1 paper
NM_001366122.1
p.L56fs
c.166_167fs
1 paper
NM_001366122.1
p.C96W
c.288C>G
1 paper
NM_001366122.1
p.E105D
c.315G>T
1 paper
NM_001366122.1
p.E105D
c.315G>C
1 paper
NM_001366122.1
p.R108C
c.322C>T
1 paper
NM_001366122.1
p.A123S
c.367G>T
1 paper
NM_001366122.1
p.N147T
c.440A>C
1 paper
NM_001366122.1
p.F151L
c.451T>C
1 paper
NM_001366122.1
p.F151L
c.453C>G
1 paper
NM_001366122.1
p.F151L
c.453C>A
1 paper
NM_001366122.1
p.C161G
c.481T>G
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