Varaico: Literature-Extracted Genetic Variants

ERBB3

1,503 papers

RefSeq Summary

This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase doma...

Pfam Domains

Recep_L_domainaa 55–167UCSCReceptor L domain

Furin-likeaa 170–332UCSCFurin-like cysteine rich region

Recep_L_domainaa 353–474UCSCReceptor L domain

GF_recep_IVaa 499–630UCSCGrowth factor receptor domain IV

PK_Tyr_Ser-Thraa 709–965UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

erb-b2 receptor tyrosine kinase 3

HGNC Previous Symbol

LCCS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_001982.4

p.C290Y

c.869G>A

Surrounding Variants

1 paper

NM_001982.4

p.C290S

c.869G>C

1 paper

NM_001982.4

p.C290insFs

c.869_870insT

1 paper

NM_001982.4

p.C290F

c.869G>T

1 paper

NM_001982.4

p.C290S

c.868T>A

1 paper

NM_001982.4

p.C290delFs

c.868delT

1 paper

NM_001982.4

p.S289T

c.866G>C

1 paper

NM_001982.4

p.H292N

c.874C>A

2 papers

NM_001982.4

p.H292Y

c.874C>T

2 papers

NM_001982.4

p.A288D

c.863C>A

2 papers

NM_001982.4

p.H292Splc

c.874+1G>A

1 paper

NM_001982.4

p.A288_S289insC

c.862_866ins3

1 paper

NM_001982.4

p.H292Q

c.876T>A