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.R103delFs

c.309delC

Surrounding Variants

11 papers

NM_001982.4

p.R103H

c.308G>A

11 papers

NM_001982.4

p.R103G

c.307C>G

2 papers

NM_001982.4

p.R103C

c.307C>T

1 paper

NM_001982.4

p.R103R

c.309C>T

120 papers

NM_001982.4

p.V104M

c.310G>A

93 papers

NM_001982.4

p.V104L

c.310G>C

95 papers

NM_001982.4

p.V104L

c.310G>T

1 paper

NM_001982.4

p.L102P

c.305T>C

1 paper

NM_001982.4

p.V104G

c.311T>G

1 paper

NM_001982.4

p.L102_R103insFs

c.306_307insC

1 paper

NM_001982.4

p.L102I

c.304C>A

3 papers

NM_001982.4

p.N101K

c.303C>A