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.L553Splc

c.1658+13T>C

Surrounding Variants

1 paper

NM_016441.3

p.L553L

c.1657C>T

1 paper

NM_016441.3

p.G551E

c.1652G>A

1 paper

NM_016441.3

p.R533H

c.1598G>A

1 paper

NM_016441.3

p.C527W

c.1581T>G

1 paper

NM_016441.3

p.G511D

c.1532G>A

1 paper

NM_016441.3

p.E503E

c.1509A>G

2 papers

NM_016441.3

p.E502K

c.1504G>A

1 paper

NM_016441.3

p.H557N

c.1669C>A

1 paper

NM_016441.3

p.H557H

c.1671C>T

1 paper

NM_016441.3

p.R563C

c.1687C>T

1 paper

NM_016441.3

p.L588I

c.1762C>A

1 paper

NM_016441.3

p.E594K

c.1780G>A