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.C556G

c.1666T>G

Surrounding Variants

1 paper

NM_001982.4

p.E555A

c.1664A>C

1 paper

NM_001982.4

p.E555G

c.1664A>G

1 paper

NM_001982.4

p.C556*

c.1668C>A

1 paper

NM_001982.4

p.C556W

c.1668C>G

1 paper

NM_001982.4

p.E555*

c.1663G>T

2 papers

NM_001982.4

p.P554Q

c.1661C>A

1 paper

NM_001982.4

p.P554A

c.1660C>G

2 papers

NM_001982.4

p.P558S

c.1672C>T

1 paper

NM_001982.4

p.H553Q

c.1659C>A

1 paper

NM_001982.4

p.P558H

c.1673C>A

1 paper

NM_001982.4

p.H553Q

c.1659C>G

1 paper

NM_001982.4

p.M559V

c.1675A>G