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.F244S

c.731T>C

Surrounding Variants

1 paper

NM_001982.4

p.F244C

c.731T>G

1 paper

NM_001982.4

p.F244L

c.732T>A

1 paper

NM_001982.4

p.F244L

c.730T>C

1 paper

NM_001982.4

p.F244L

c.732T>G

1 paper

NM_001982.4

p.C243G

c.727T>G

1 paper

NM_001982.4

p.D242N

c.724G>A

1 paper

NM_001982.4

p.D242Y

c.724G>T

1 paper

NM_001982.4

p.T241I

c.722C>T

1 paper

NM_001982.4

p.T241P

c.721A>C

1 paper

NM_001982.4

p.D240A

c.719A>C

1 paper

NM_001982.4

p.D240N

c.718G>A

2 papers

NM_001982.4

p.Q239E

c.715C>G