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.G12A

c.35G>C

Surrounding Variants

1 paper

NM_016441.3

p.A11V

c.32C>T

3 papers

NM_016441.3

p.G9V

c.26G>T

1 paper

NM_016441.3

p.V4V

c.12G>A

1 paper

NM_016441.3

p.L3F

c.9G>C

1 paper

NM_016441.3

p.L3S

c.8T>C

1 paper

NM_016441.3

p.Y2Y

c.6C>T

1 paper

NM_016441.3

p.Y2H

c.4T>C

1 paper

NM_016441.3

p.M1T

c.2T>C

1 paper

NM_016441.3

p.L26M

c.76C>A

1 paper

NM_016441.3

p.G53A

c.158G>C

1 paper

NM_016441.3

p.Q69*

c.205C>T

1 paper

NM_016441.3

p.E72V

c.215A>T