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.S346T

c.1037G>C

Surrounding Variants

1 paper

NM_001982.4

p.S346R

c.1036A>C

1 paper

NM_001982.4

p.S346R

c.1038C>A

1 paper

NM_001982.4

p.S346R

c.1038C>G

1 paper

NM_001982.4

p.N347I

c.1040A>T

1 paper

NM_001982.4

p.S345*

c.1034C>A

2 papers

NM_001982.4

p.S345L

c.1034C>T

1 paper

NM_001982.4

p.N347K

c.1041C>A

1 paper

NM_001982.4

p.N347K

c.1041C>G

1 paper

NM_001982.4

p.N347N

c.1041C>T

1 paper

NM_001982.4

p.S345T

c.1033T>A

1 paper

NM_001982.4

p.I348V

c.1042A>G

1 paper

NM_001982.4

p.D344E

c.1032C>A