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

2 papers

NM_001982.4

p.G253R

c.757G>C

Surrounding Variants

2 papers

NM_001982.4

p.G253R

c.757G>A

2 papers

NM_001982.4

p.G253*

c.757G>T

1 paper

NM_001982.4

p.G253A

c.758G>C

1 paper

NM_001982.4

p.S252T

c.755G>C

1 paper

NM_001982.4

p.D251V

c.752A>T

1 paper

NM_001982.4

p.D251H

c.751G>C

1 paper

NM_001982.4

p.C255G

c.763T>G

1 paper

NM_001982.4

p.C255Y

c.764G>A

1 paper

NM_001982.4

p.N250K

c.750T>A

1 paper

NM_001982.4

p.N250K

c.750T>G

1 paper

NM_001982.4

p.N250S

c.749A>G

1 paper

NM_001982.4

p.N250delFs

c.750delT