Varaico: Literature-Extracted Genetic Variants

CRELD1

120 papers

RefSeq Summary

This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein ma...

Pfam Domains

DUF3456aa 45–103UCSCTLR4 regulator and MIR-interacting MSAP

DUF3456aa 99–142UCSCTLR4 regulator and MIR-interacting MSAP

EGF_CAaa 245–303UCSCCalcium-binding EGF domain

EGF_CAaa 305–345UCSCCalcium-binding EGF domain

Gene Aliases

HGNC Name

CRELD disulfide isomerase 1

HGNC Previous Symbol

AVSD2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001077415.3

p.A398A

c.1194G>A

Surrounding Variants

1 paper

NM_001077415.3

p.A391P

c.1171G>C

1 paper

NM_001077415.3

p.R408C

c.1222C>T

1 paper

NM_001077415.3

p.R408H

c.1223G>A

2 papers

NM_001077415.3

p.D386N

c.1156G>A

5 papers

NM_001077415.3

p.E414K

c.1240G>A

2 papers

NM_001077415.3

p.I417V

c.1249A>G

1 paper

NM_001077415.3

p.T380M

c.1139C>T

1 paper

NM_001077415.3

p.A377fs

c.1129_1130fs

1 paper

NM_001077415.3

p.C376*

c.1128T>A

1 paper

NM_001077415.3

p.C376_A377delFs

c.1128_1129delTG

3 papers

NM_001077415.3

p.I373I

c.1119C>T

2 papers

NM_001077415.3

p.M369V

c.1105A>G