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

27 papers

NM_001982.4

p.E542K

c.1624G>A

Surrounding Variants

3 papers

NM_001982.4

p.E542Q

c.1624G>C

3 papers

NM_001982.4

p.E542*

c.1624G>T

2 papers

NM_001982.4

p.E542A

c.1625A>C

3 papers

NM_001982.4

p.E542G

c.1625A>G

1 paper

NM_001982.4

p.E542V

c.1625A>T

1 paper

NM_001982.4

p.R541Q

c.1622G>A

1 paper

NM_001982.4

p.R541P

c.1622G>C

1 paper

NM_001982.4

p.R541L

c.1622G>T

1 paper

NM_001982.4

p.R541fs

c.1621_1622fs

2 papers

NM_001982.4

p.R541*

c.1621C>T

1 paper

NM_001982.4

p.F543fs

c.1627_1628fs

1 paper

NM_001982.4

p.P540R

c.1619C>G