Varaico: Literature-Extracted Genetic Variants

CILP2

19p13.11 (UCSC)OMIM GTEx

96 papers

Pfam Domains

Mucin2_WxxWaa 59–143UCSCMucin-2 protein WxxW repeating region

TSP_1aa 150–196UCSCThrombospondin type 1 domain

CarboxypepD_regaa 210–287UCSCCarboxypeptidase regulatory-like domain

Ig_3aa 291–363UCSCImmunoglobulin domain

CILP_5thaa 384–455UCSCCartilage intermediate layer protein 1-like domain

CILPaa 469–558UCSCCartilage intermediate layer protein 1-like domain

Gene Aliases

HGNC Name

cartilage intermediate layer protein 2

HGNC Alias Symbol

MGC45771

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_153221.2

p.C1018C

c.3054C>T

Surrounding Variants

2 papers

NM_153221.2

p.G1025R

c.3073G>A

2 papers

NM_153221.2

p.G1025R

c.3073G>C

1 paper

NM_153221.2

p.G1025E

c.3074G>A

1 paper

NM_153221.2

p.R1007R

c.3019A>C

1 paper

NM_153221.2

p.R1033R

c.3099G>A

1 paper

NM_153221.2

p.H1034fs

c.3100_3101fs

1 paper

NM_153221.2

p.H1034delFs

c.3102delC

1 paper

NM_153221.2

p.F993L

c.2979C>A

1 paper

NM_153221.2

p.F993L

c.2979C>G

1 paper

NM_153221.2

p.F993L

c.2977T>C

1 paper

NM_153221.2

p.G971*

c.2911G>T

1 paper

NM_153221.2

p.S1068G

c.3202A>G