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

28 papers

NM_013964.5

p.R38Q

c.113G>A

NM_001159995.3

p.R17Q

c.50G>A

Surrounding Variants

1 paper

NM_013964.5

p.R38P

c.113G>C

1 paper

NM_013964.5

p.R38insFs

c.112_113insA

1 paper

NM_013964.5

p.P37_R38insFs

c.111_112insA

1 paper

NM_013964.5

p.P37R

c.110C>G

1 paper

NM_013964.5

p.P37fs

c.109_110fs

1 paper

NM_013964.5

p.L39F

c.117G>C

1 paper

NM_013964.5

p.L39F

c.117G>T

1 paper

NM_013964.5

p.P36P

c.108T>A

1 paper

NM_013964.5

p.L35S

c.104T>C

2 papers

NM_013964.5

p.A34D

c.101C>A

1 paper

NM_013964.5

p.K43*

c.127A>T

1 paper

NM_013964.5

p.Q45Q

c.135G>A