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.C227S

c.680G>C

Surrounding Variants

1 paper

NM_001982.4

p.C227S

c.679T>A

1 paper

NM_001982.4

p.H228P

c.683A>C

5 papers

NM_001982.4

p.H228R

c.683A>G

7 papers

NM_001982.4

p.H228Q

c.684T>A

7 papers

NM_001982.4

p.H228Q

c.684T>G

1 paper

NM_001982.4

p.D229H

c.685G>C

1 paper

NM_001982.4

p.E230*

c.688G>T

1 paper

NM_001982.4

p.E230fs

c.688_689fs

1 paper

NM_001982.4

p.E230A

c.689A>C

1 paper

NM_001982.4

p.N224Y

c.670A>T

1 paper

NM_001982.4

p.C231R

c.691T>C

2 papers

NM_001982.4

p.C231Y

c.692G>A