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.S64F

c.191C>T

Surrounding Variants

1 paper

NM_013964.5

p.Y63*

c.189C>A

1 paper

NM_013964.5

p.Y63*

c.189C>G

1 paper

NM_013964.5

p.S65T

c.193T>A

1 paper

NM_013964.5

p.Y63F

c.188A>T

1 paper

NM_013964.5

p.L66insFs

c.197dupT

1 paper

NM_013964.5

p.R67G

c.199A>G

1 paper

NM_013964.5

p.S60_S61delins

c.180_181delinsAA

1 paper

NM_013964.5

p.K69E

c.205A>G

2 papers

NM_013964.5

p.E58K

c.172G>A

1 paper

NM_013964.5

p.F71_K72insTGC

c.211_215ins9

1 paper

NM_013964.5

p.F71_K72insFs

c.213_214insT

1 paper

NM_013964.5

p.F71F

c.213C>T