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.D112G

c.335A>G

Surrounding Variants

2 papers

NM_001982.4

p.D112E

c.336T>A

2 papers

NM_001982.4

p.D112E

c.336T>G

1 paper

NM_001982.4

p.Y111*

c.333C>A

1 paper

NM_001982.4

p.Y111*

c.333C>G

3 papers

NM_001982.4

p.G113R

c.337G>A

2 papers

NM_001982.4

p.G113R

c.337G>C

1 paper

NM_001982.4

p.G113W

c.337G>T

2 papers

NM_001982.4

p.Y111C

c.332A>G

1 paper

NM_001982.4

p.G113E

c.338G>A

3 papers

NM_001982.4

p.Y111H

c.331T>C

1 paper

NM_001982.4

p.K114Q

c.340A>C

1 paper

NM_001982.4

p.K114N

c.342G>C