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

3 papers

NM_013964.5

p.T171S

c.511A>T

Surrounding Variants

1 paper

NM_013964.5

p.S170_T171delFs

c.510_511delTA

1 paper

NM_013964.5

p.T169T

c.507A>C

1 paper

NM_013964.5

p.S172S

c.516C>T

1 paper

NM_013964.5

p.L179F

c.535C>T

1 paper

NM_013964.5

p.L179_K187del0

c.536_559del24

1 paper

NM_013964.5

p.C182S

c.545G>C

1 paper

NM_013964.5

p.A183S

c.547G>T

1 paper

NM_013964.5

p.S168Splc

c.503-33C>A

1 paper

NM_013964.5

p.K187R

c.560A>G

1 paper

NM_013964.5

p.S168Splc

c.503-44G>A

1 paper

NM_013964.5

p.K200E

c.598A>G

1 paper

NM_013964.5

p.D201V

c.602A>T