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.S219F

c.656C>T

Surrounding Variants

1 paper

NM_153221.2

p.L223L

c.667C>T

1 paper

NM_153221.2

p.I210N

c.629T>A

1 paper

NM_153221.2

p.R256C

c.766C>T

1 paper

NM_153221.2

p.Q274*

c.820C>T

1 paper

NM_153221.2

p.V282G

c.845T>G

1 paper

NM_153221.2

p.R301*

c.901C>T

1 paper

NM_153221.2

p.R303*

c.907C>T

1 paper

NM_153221.2

p.Q307P

c.920A>C

1 paper

NM_153221.2

p.R336*

c.1006C>T

1 paper

NM_153221.2

p.R347Q

c.1040G>A

1 paper

NM_153221.2

p.W362*

c.1085G>A

1 paper

NM_153221.2

p.W362*

c.1086G>A