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

3 papers

NM_016441.3

p.H412P

c.1235A>C

Surrounding Variants

1 paper

NM_016441.3

p.H412H

c.1236C>T

1 paper

NM_016441.3

p.G413R

c.1237G>A

1 paper

NM_016441.3

p.G413R

c.1237G>C

1 paper

NM_016441.3

p.N406S

c.1217A>G

1 paper

NM_016441.3

p.R431C

c.1291C>T

1 paper

NM_016441.3

p.Q440*

c.1318C>T

1 paper

NM_016441.3

p.V446L

c.1336G>C

1 paper

NM_016441.3

p.V446L

c.1336G>T

1 paper

NM_016441.3

p.K447_V448insFs

c.1341_1342insTG

1 paper

NM_016441.3

p.P449T

c.1345C>A

1 paper

NM_016441.3

p.C456insFs

c.1366_1367insGC

1 paper

NM_016441.3

p.C456insFs

c.1367_1368insCA