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

6 papers

NM_001982.4

p.S236P

c.706T>C

Surrounding Variants

1 paper

NM_001982.4

p.S236*

c.707C>A

1 paper

NM_001982.4

p.S236*

c.707C>G

2 papers

NM_001982.4

p.C235S

c.704G>C

1 paper

NM_001982.4

p.C235F

c.704G>T

1 paper

NM_001982.4

p.G237S

c.709G>A

2 papers

NM_001982.4

p.C235S

c.703T>A

1 paper

NM_001982.4

p.C235delFs

c.703delT

1 paper

NM_001982.4

p.G234V

c.701G>T

1 paper

NM_001982.4

p.P238T

c.712C>A

1 paper

NM_001982.4

p.P238A

c.712C>G

1 paper

NM_001982.4

p.G234R

c.700G>C

1 paper

NM_001982.4

p.P238R

c.713C>G