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.N100_K101del2

c.298_302del6

Surrounding Variants

1 paper

NM_013964.5

p.N100_K101del1

c.299_301delACA

1 paper

NM_013964.5

p.N100K

c.300C>A

1 paper

NM_013964.5

p.K101_S103ins1

c.301_309dup9

1 paper

NM_013964.5

p.R98C

c.292C>T

1 paper

NM_013964.5

p.E96G

c.287A>G

1 paper

NM_013964.5

p.S103T

c.307T>A

1 paper

NM_013964.5

p.L104L

c.312G>A

1 paper

NM_013964.5

p.K94N

c.282G>C

4 papers

NM_013964.5

p.A105_D106del1

c.314_316delCTG

1 paper

NM_013964.5

p.S107T

c.319T>A

1 paper

NM_013964.5

p.S107Y

c.320C>A

1 paper

NM_013964.5

p.G108delFs

c.322_323delGG