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

1–12 of 95 variants

2 papers

NM_153221.2

p.R390Q

c.1169G>A

2 papers

NM_153221.2

p.R472W

c.1414C>T

2 papers

NM_153221.2

p.V560D

c.1679T>A

2 papers

NM_153221.2

p.N685S

c.2054A>G

2 papers

NM_153221.2

p.A768G

c.2303C>G

2 papers

NM_153221.2

p.G1025R

c.3073G>A

2 papers

NM_153221.2

p.G1025R

c.3073G>C

1 paper

NM_153221.2

p.A33Fs

c.99delinsGGFs

1 paper

NM_153221.2

p.G35D

c.104G>A

1 paper

NM_153221.2

p.E54Q

c.160G>C

1 paper

NM_153221.2

p.W62S

c.185G>C

1 paper

NM_153221.2

p.Y84S

c.251A>C