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.A48A

c.144T>A

Surrounding Variants

1 paper

NM_013964.5

p.A49T

c.145G>A

1 paper

NM_013964.5

p.A49G

c.146C>G

1 paper

NM_013964.5

p.A49V

c.146C>T

1 paper

NM_013964.5

p.A48S

c.142G>T

1 paper

NM_013964.5

p.S51C

c.152C>G

1 paper

NM_013964.5

p.E46K

c.136G>A

1 paper

NM_013964.5

p.Q45Q

c.135G>A

1 paper

NM_013964.5

p.K43*

c.127A>T

2 papers

NM_013964.5

p.R56W

c.166C>T

1 paper

NM_013964.5

p.R56Q

c.167G>A

1 paper

NM_013964.5

p.L39F

c.117G>C

1 paper

NM_013964.5

p.L39F

c.117G>T