Varaico: Literature-Extracted Genetic Variants

CILP

116 papers

RefSeq Summary

Major alterations in the composition of the cartilage extracellular matrix occur in joint disease, such as osteoarthrosis. This gene encodes the cartilage intermediate layer protein (CILP), which incr...

Pfam Domains

Mucin2_WxxWaa 56–139UCSCMucin-2 protein WxxW repeating region

TSP_1aa 153–200UCSCThrombospondin type 1 domain

Ig_3aa 308–380UCSCImmunoglobulin domain

CILP_5thaa 401–472UCSCCartilage intermediate layer protein 1-like domain

CILPaa 486–575UCSCCartilage intermediate layer protein 1-like domain

CILP_8thaa 751–918UCSCCartilage intermediate layer protein 1-like domain

Gene Aliases

HGNC Name

cartilage intermediate layer protein

HGNC Alias Symbols

HsT18872; CILP1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003613.4

p.S359T

c.1076G>C

Surrounding Variants

1 paper

NM_003613.4

p.D381G

c.1142A>G

1 paper

NM_003613.4

p.A384delFs

c.1150delC

21 papers

NM_003613.4

p.I395T

c.1184T>C

1 paper

NM_003613.4

p.S327F

c.980C>T

1 paper

NM_003613.4

p.A319S

c.955G>T

1 paper

NM_003613.4

p.N314Y

c.940A>T

1 paper

NM_003613.4

p.F282L

c.844T>C

1 paper

NM_003613.4

p.D270H

c.808G>C

1 paper

NM_003613.4

p.T249M

c.746C>T

1 paper

NM_003613.4

p.I243fs

c.727_728fs

1 paper

NM_003613.4

p.A242insFs

c.725_726insG

1 paper

NM_003613.4

p.A229V

c.686C>T