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.I127delFs

c.381delC

Surrounding Variants

1 paper

NM_013964.5

p.T128insFs

c.383_384insG

2 papers

NM_013964.5

p.T128I

c.383C>T

1 paper

NM_013964.5

p.A125A

c.375C>A

1 paper

NM_013964.5

p.V130delFs

c.388delG

1 paper

NM_013964.5

p.E131K

c.391G>A

1 paper

NM_013964.5

p.S132fs

c.394_395fs

1 paper

NM_013964.5

p.S132_E134delFs

c.396_400del5

1 paper

NM_013964.5

p.S122N

c.365G>A

2 papers

NM_013964.5

p.D121H

c.361G>C

3 papers

NM_013964.5

p.E134K

c.400G>A

1 paper

NM_013964.5

p.K117*

c.349A>T

1 paper

NM_013964.5

p.S116C

c.346A>T