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.Y823N

c.2467T>A

Surrounding Variants

4 papers

NM_001982.4

p.Y823D

c.2467T>G

1 paper

NM_001982.4

p.Y823C

c.2468A>G

1 paper

NM_001982.4

p.M822I

c.2466G>A

1 paper

NM_001982.4

p.M822I

c.2466G>C

1 paper

NM_001982.4

p.M822I

c.2466G>T

1 paper

NM_001982.4

p.M822T

c.2465T>C

1 paper

NM_001982.4

p.M822fs

c.2464_2465fs

1 paper

NM_001982.4

p.M822V

c.2464A>G

1 paper

NM_001982.4

p.G821V

c.2462G>T

2 papers

NM_001982.4

p.L825F

c.2473C>T

1 paper

NM_001982.4

p.E826V

c.2477A>T

1 paper

NM_001982.4

p.E826D

c.2478G>C