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.H248Q

c.744C>A

Surrounding Variants

1 paper

NM_001982.4

p.H248Q

c.744C>G

1 paper

NM_001982.4

p.F249V

c.745T>G

1 paper

NM_001982.4

p.H248D

c.742C>G

1 paper

NM_001982.4

p.H248Y

c.742C>T

1 paper

NM_001982.4

p.R247Q

c.740G>A

1 paper

NM_001982.4

p.R247P

c.740G>C

1 paper

NM_001982.4

p.N250S

c.749A>G

1 paper

NM_001982.4

p.N250delFs

c.750delT

2 papers

NM_001982.4

p.R247W

c.739C>T

1 paper

NM_001982.4

p.C246*

c.738C>A

1 paper

NM_001982.4

p.N250K

c.750T>A

1 paper

NM_001982.4

p.N250K

c.750T>G