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.Q865L

c.2594A>T

Surrounding Variants

1 paper

NM_001982.4

p.Q865K

c.2593C>A

2 papers

NM_001982.4

p.Q865H

c.2595G>C

2 papers

NM_001982.4

p.Q865H

c.2595G>T

1 paper

NM_001982.4

p.L866M

c.2596C>A

1 paper

NM_001982.4

p.L866P

c.2597T>C

1 paper

NM_001982.4

p.K864Q

c.2590A>C

1 paper

NM_001982.4

p.L867V

c.2599C>G

1 paper

NM_001982.4

p.D863E

c.2589T>A

1 paper

NM_001982.4

p.D863E

c.2589T>G

1 paper

NM_001982.4

p.D863A

c.2588A>C

1 paper

NM_001982.4

p.D863V

c.2588A>T

1 paper

NM_001982.4

p.L867Q

c.2600T>A