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.R698W

c.2092C>T

Surrounding Variants

1 paper

NM_153221.2

p.R698Q

c.2093G>A

1 paper

NM_153221.2

p.G696fs

c.2086_2087fs

1 paper

NM_153221.2

p.E692G

c.2075A>G

1 paper

NM_153221.2

p.G689S

c.2065G>A

2 papers

NM_153221.2

p.N685S

c.2054A>G

1 paper

NM_153221.2

p.M672V

c.2014A>G

1 paper

NM_153221.2

p.R724W

c.2170C>T

1 paper

NM_153221.2

p.R725C

c.2173C>T

1 paper

NM_153221.2

p.L726P

c.2177T>C

1 paper

NM_153221.2

p.V731M

c.2191G>A

1 paper

NM_153221.2

p.Q655R

c.1964A>G

1 paper

NM_153221.2

p.R648L

c.1943G>T