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.P83S

c.247C>T

Surrounding Variants

2 papers

NM_013964.5

p.P83T

c.247C>A

1 paper

NM_013964.5

p.K82E

c.244A>G

1 paper

NM_013964.5

p.Q84*

c.250C>T

1 paper

NM_013964.5

p.R79L

c.236G>T

2 papers

NM_013964.5

p.R79*

c.235C>T

1 paper

NM_013964.5

p.I88V

c.262A>G

1 paper

NM_013964.5

p.Q89fs

c.265_266fs

2 papers

NM_013964.5

p.Q89delFs

c.266delA

1 paper

NM_013964.5

p.K90T

c.269A>C

1 paper

NM_013964.5

p.K90I

c.269A>T

1 paper

NM_013964.5

p.N75I

c.224A>T

1 paper

NM_013964.5

p.N75D

c.223A>G