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

2 papers

NM_153221.2

p.V560D

c.1679T>A

Surrounding Variants

1 paper

NM_153221.2

p.V551V

c.1653C>G

1 paper

NM_153221.2

p.G546S

c.1636G>A

1 paper

NM_153221.2

p.G544_A545ins5

c.1630_1634ins15

1 paper

NM_153221.2

p.A579G

c.1736C>G

1 paper

NM_153221.2

p.P539S

c.1615C>T

1 paper

NM_153221.2

p.D595N

c.1783G>A

1 paper

NM_153221.2

p.T517S

c.1550C>G

1 paper

NM_153221.2

p.T517S

c.1549A>T

1 paper

NM_153221.2

p.T608M

c.1823C>T

1 paper

NM_153221.2

p.A491T

c.1471G>A

1 paper

NM_153221.2

p.R489G

c.1465C>G

1 paper

NM_153221.2

p.R478C

c.1432C>T