Varaico: Literature-Extracted Genetic Variants

CRIM1

168 papers

RefSeq Summary

This gene encodes a transmembrane protein containing six cysteine-rich repeat domains and an insulin-like growth factor-binding domain. The encoded protein may play a role in tissue development though...

Pfam Domains

IGFBPaa 37–90UCSCInsulin-like growth factor binding protein

VWCaa 336–390UCSCvon Willebrand factor type C domain

VWC2L_2ndaa 403–455UCSCVWC2L-like domain

Antistasinaa 469–498UCSCAntistasin family

Antistasinaa 505–532UCSCAntistasin family

Antistasinaa 539–564UCSCAntistasin family

Gene Aliases

HGNC Name

cysteine rich transmembrane BMP regulator 1

HGNC Previous Symbol

S52

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_016441.3

p.M351I

c.1053G>T

Surrounding Variants

2 papers

NM_016441.3

p.M351I

c.1053G>A

2 papers

NM_016441.3

p.M351I

c.1053G>C

1 paper

NM_016441.3

p.C354*

c.1062T>A

1 paper

NM_016441.3

p.D347Y

c.1039G>T

1 paper

NM_016441.3

p.E342V

c.1025A>T

1 paper

NM_016441.3

p.G362S

c.1084G>A

3 papers

NM_016441.3

p.V363I

c.1087G>A

1 paper

NM_016441.3

p.V363V

c.1089T>A

1 paper

NM_016441.3

p.V337I

c.1009G>A

1 paper

NM_016441.3

p.T368T

c.1104C>T

1 paper

NM_016441.3

p.P334S

c.1000C>T

1 paper

NM_016441.3

p.A369V

c.1106C>T