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

1 paper

NM_001982.4

p.G233R

c.697G>C

Surrounding Variants

1 paper

NM_001982.4

p.G233R

c.697G>A

1 paper

NM_001982.4

p.G233W

c.697G>T

1 paper

NM_001982.4

p.G233E

c.698G>A

1 paper

NM_001982.4

p.G233V

c.698G>T

1 paper

NM_001982.4

p.G234_Q239del6

c.700_716del18

41 papers

NM_001982.4

p.A232V

c.695C>T

9 papers

NM_001982.4

p.A232T

c.694G>A

1 paper

NM_001982.4

p.G234R

c.700G>C

1 paper

NM_001982.4

p.G234V

c.701G>T

1 paper

NM_001982.4

p.C235delFs

c.703delT

2 papers

NM_001982.4

p.C231Y

c.692G>A

2 papers

NM_001982.4

p.C235S

c.703T>A