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

63 papers

NM_001982.4

p.L858R

c.2573T>G

Surrounding Variants

2 papers

NM_001982.4

p.L858M

c.2572C>A

1 paper

NM_001982.4

p.L858V

c.2572C>G

1 paper

NM_001982.4

p.D857E

c.2571C>A

1 paper

NM_001982.4

p.D857E

c.2571C>G

1 paper

NM_001982.4

p.D857V

c.2570A>T

1 paper

NM_001982.4

p.L859P

c.2576T>C

2 papers

NM_001982.4

p.D857N

c.2569G>A

3 papers

NM_001982.4

p.D857H

c.2569G>C

1 paper

NM_001982.4

p.P860T

c.2578C>A

1 paper

NM_001982.4

p.P860A

c.2578C>G

2 papers

NM_001982.4

p.P860S

c.2578C>T

2 papers

NM_001982.4

p.A856V

c.2567C>T