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.W362*

c.1085G>A

Surrounding Variants

1 paper

NM_153221.2

p.W362*

c.1086G>A

1 paper

NM_153221.2

p.R369C

c.1105C>T

1 paper

NM_153221.2

p.R347Q

c.1040G>A

1 paper

NM_153221.2

p.R336*

c.1006C>T

2 papers

NM_153221.2

p.R390Q

c.1169G>A

1 paper

NM_153221.2

p.Q307P

c.920A>C

1 paper

NM_153221.2

p.R303*

c.907C>T

1 paper

NM_153221.2

p.R301*

c.901C>T

1 paper

NM_153221.2

p.E444G

c.1331A>G

1 paper

NM_153221.2

p.R472G

c.1414C>G

2 papers

NM_153221.2

p.R472W

c.1414C>T

1 paper

NM_153221.2

p.R478C

c.1432C>T