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.N92I

c.275A>T

Surrounding Variants

2 papers

NM_001982.4

p.N92S

c.275A>G

30 papers

NM_001982.4

p.M91I

c.273G>A

1 paper

NM_001982.4

p.E93K

c.277G>A

30 papers

NM_001982.4

p.M91I

c.273G>C

1 paper

NM_001982.4

p.E93_F94insP

c.277_281ins3

29 papers

NM_001982.4

p.M91I

c.273G>T

1 paper

NM_001982.4

p.E93*

c.277G>T

1 paper

NM_001982.4

p.E93delFs

c.278delA

1 paper

NM_001982.4

p.E93A

c.278A>C

2 papers

NM_001982.4

p.M91L

c.271A>C

1 paper

NM_001982.4

p.M91V

c.271A>G

2 papers

NM_001982.4

p.M91L

c.271A>T