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

1 paper

NM_016441.3

p.L206F

c.618A>C

Surrounding Variants

1 paper

NM_016441.3

p.L206F

c.618A>T

1 paper

NM_016441.3

p.L206*

c.617T>G

1 paper

NM_016441.3

p.P205S

c.613C>T

1 paper

NM_016441.3

p.E202fs

c.604_605fs

1 paper

NM_016441.3

p.G201fs

c.601_602fs

2 papers

NM_016441.3

p.G201delFs

c.601delG

1 paper

NM_016441.3

p.A215T

c.643G>A

1 paper

NM_016441.3

p.E195K

c.583G>A

1 paper

NM_016441.3

p.K220E

c.658A>G

1 paper

NM_016441.3

p.E189K

c.565G>A

2 papers

NM_016441.3

p.R186C

c.556C>T

1 paper

NM_016441.3

p.L227P

c.680T>C