Varaico: Literature-Extracted Genetic Variants

NRG1

532 papers

RefSeq Summary

The protein encoded by this gene is a membrane glycoprotein that mediates cell-cell signaling and plays a critical role in the growth and development of multiple organ systems. An extraordinary variet...

Pfam Domains

EGFaa 28–66UCSCEGF-like domain

I-setaa 36–129UCSCImmunoglobulin I-set domain

Neuregulinaa 113–275UCSCNeuregulin intracellular region

EGFaa 182–220UCSCEGF-like domain

Gene Aliases

HGNC Name

neuregulin 1

HGNC Previous Symbols

HGL; NRG1-IT2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_013964.5

p.G19S

c.55G>A

Surrounding Variants

2 papers

NM_013964.5

p.G19R

c.55G>C

2 papers

NM_013964.5

p.R18Q

c.53G>A

1 paper

NM_013964.5

p.E17K

c.49G>A

1 paper

NM_013964.5

p.K22Q

c.64A>C

1 paper

NM_013964.5

p.K16E

c.46A>G

1 paper

NM_013964.5

p.K15R

c.44A>G

2 papers

NM_013964.5

p.K23insFs

c.67_68insG

1 paper

NM_013964.5

p.K14K

c.42G>A

3 papers

NM_013964.5

p.P24insFs

c.70_71insG

3 papers

NM_013964.5

p.G13D

c.38G>A

1 paper

NM_013964.5

p.P24P

c.72G>A

1 paper

NM_013964.5

p.G13delins

c.38_39delinsTT