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.Q281P

c.842A>C

Surrounding Variants

1 paper

NM_001982.4

p.Q281*

c.841C>T

1 paper

NM_001982.4

p.Y282H

c.844T>C

1 paper

NM_001982.4

p.Y280F

c.839A>T

1 paper

NM_001982.4

p.Y282F

c.845A>T

1 paper

NM_001982.4

p.G283R

c.847G>A

1 paper

NM_001982.4

p.K279N

c.837G>C

1 paper

NM_001982.4

p.G283R

c.847G>C

1 paper

NM_001982.4

p.K279N

c.837G>T

1 paper

NM_001982.4

p.K279R

c.836A>G

1 paper

NM_001982.4

p.G283A

c.848G>C

109 papers

NM_001982.4

p.G284R

c.850G>A

110 papers

NM_001982.4

p.G284R

c.850G>C