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.W930*

c.2789G>A

Surrounding Variants

1 paper

NM_153221.2

p.W930*

c.2790G>A

1 paper

NM_153221.2

p.R937W

c.2809C>T

1 paper

NM_153221.2

p.R937Q

c.2810G>A

1 paper

NM_153221.2

p.R966R

c.2898C>T

1 paper

NM_153221.2

p.P891L

c.2672C>T

1 paper

NM_153221.2

p.G971*

c.2911G>T

1 paper

NM_153221.2

p.G889R

c.2665G>A

1 paper

NM_153221.2

p.G889R

c.2665G>C

1 paper

NM_153221.2

p.E886E

c.2658A>G

1 paper

NM_153221.2

p.R885Q

c.2654G>A

1 paper

NM_153221.2

p.V878M

c.2632G>A

1 paper

NM_153221.2

p.F993L

c.2977T>C