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.Y265*

c.795C>A

Surrounding Variants

1 paper

NM_001982.4

p.Y265*

c.795C>G

1 paper

NM_001982.4

p.Y265S

c.794A>C

1 paper

NM_001982.4

p.Y265C

c.794A>G

1 paper

NM_001982.4

p.N266I

c.797A>T

1 paper

NM_001982.4

p.Y265D

c.793T>G

1 paper

NM_001982.4

p.V264A

c.791T>C

1 paper

NM_001982.4

p.V264G

c.791T>G

1 paper

NM_001982.4

p.L268V

c.802C>G

1 paper

NM_001982.4

p.L268L

c.802C>T

1 paper

NM_001982.4

p.L263R

c.788T>G

2 papers

NM_001982.4

p.L263F

c.787C>T

1 paper

NM_001982.4

p.L268L

c.804A>C