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.R303K

c.908G>A

Surrounding Variants

1 paper

NM_001982.4

p.A304T

c.910G>A

1 paper

NM_001982.4

p.A304P

c.910G>C

2 papers

NM_001982.4

p.A304S

c.910G>T

1 paper

NM_001982.4

p.A304V

c.911C>T

1 paper

NM_001982.4

p.V302G

c.905T>G

1 paper

NM_001982.4

p.V302I

c.904G>A

1 paper

NM_001982.4

p.C305R

c.913T>C

1 paper

NM_001982.4

p.C305Y

c.914G>A

1 paper

NM_001982.4

p.C301F

c.902G>T

1 paper

NM_001982.4

p.V302_P307del6

c.904_920del18

1 paper

NM_001982.4

p.C305*

c.915T>A

1 paper

NM_001982.4

p.P306A

c.916C>G