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

1–12 of 359 variants

27 papers

NM_013964.5

p.R38Q

c.113G>A

4 papers

NM_013964.5

p.A105_D106del1

c.314_316delCTG

3 papers

NM_013964.5

p.G13C

c.37G>T

3 papers

NM_013964.5

p.G13D

c.38G>A

3 papers

NM_013964.5

p.P24insFs

c.70_71insG

3 papers

NM_013964.5

p.G93R

c.277G>A

3 papers

NM_013964.5

p.I127delFs

c.381delC

3 papers

NM_013964.5

p.E134K

c.400G>A

3 papers

NM_013964.5

p.M139I

c.417G>A

3 papers

NM_013964.5

p.M139I

c.417G>C

3 papers

NM_013964.5

p.M139I

c.417G>T

3 papers

NM_013964.5

p.T171S

c.511A>T