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.E321D

c.963G>T

Surrounding Variants

2 papers

NM_001982.4

p.E321D

c.963G>C

1 paper

NM_001982.4

p.E321G

c.962A>G

2 papers

NM_001982.4

p.E321V

c.962A>T

1 paper

NM_001982.4

p.P322A

c.964C>G

1 paper

NM_001982.4

p.P322H

c.965C>A

1 paper

NM_001982.4

p.C320W

c.960T>G

1 paper

NM_001982.4

p.C323S

c.967T>A

1 paper

NM_001982.4

p.C323S

c.968G>C

1 paper

NM_001982.4

p.C320G

c.958T>G

1 paper

NM_001982.4

p.C323*

c.969T>A

1 paper

NM_001982.4

p.G324delFs

c.970delG

2 papers

NM_001982.4

p.G324R

c.970G>A