Varaico: Literature-Extracted Genetic Variants

Gene:CRIM1

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
1–12 of 164 variants
3 papers
NM_016441.3
p.G9V
c.26G>T
3 papers
NM_016441.3
p.R314C
c.940C>T
3 papers
NM_016441.3
p.V363I
c.1087G>A
3 papers
NM_016441.3
p.H412P
c.1235A>C
2 papers
NM_016441.3
p.G12A
c.35G>C
2 papers
NM_016441.3
p.R186C
c.556C>T
2 papers
NM_016441.3
p.G201delFs
c.601delG
2 papers
NM_016441.3
p.M351I
c.1053G>A
2 papers
NM_016441.3
p.M351I
c.1053G>C
2 papers
NM_016441.3
p.M351I
c.1053G>T
2 papers
NM_016441.3
p.E383K
c.1147G>A
2 papers
NM_016441.3
p.E502K
c.1504G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."