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.R112C

c.334C>T

Surrounding Variants

1 paper

NM_153221.2

p.A95V

c.284C>T

1 paper

NM_153221.2

p.L94Q

c.281T>A

1 paper

NM_153221.2

p.V89G

c.266T>G

1 paper

NM_153221.2

p.Y84S

c.251A>C

1 paper

NM_153221.2

p.W62S

c.185G>C

1 paper

NM_153221.2

p.E54Q

c.160G>C

1 paper

NM_153221.2

p.G35D

c.104G>A

1 paper

NM_153221.2

p.A33Fs

c.99delinsGGFs

1 paper

NM_153221.2

p.G153D

c.458G>A

1 paper

NM_153221.2

p.R171S

c.511C>A

1 paper

NM_153221.2

p.P182insFs

c.544_545ins5

1 paper

NM_153221.2

p.I210N

c.629T>A