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.R314C

c.940C>T

Surrounding Variants

1 paper

NM_016441.3

p.G315S

c.943G>A

1 paper

NM_016441.3

p.G315R

c.943G>C

1 paper

NM_016441.3

p.S313fs

c.937_938fs

1 paper

NM_016441.3

p.D316delFs

c.948delT

1 paper

NM_016441.3

p.I311fs

c.931_932fs

1 paper

NM_016441.3

p.R310ins2

c.929_930ins6

1 paper

NM_016441.3

p.P309L

c.926C>T

1 paper

NM_016441.3

p.K321fs

c.961_962fs

1 paper

NM_016441.3

p.F326Y

c.977T>A

1 paper

NM_016441.3

p.P301L

c.902C>T

1 paper

NM_016441.3

p.P301S

c.901C>T

1 paper

NM_016441.3

p.P301fs

c.901_902fs