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.P98R

c.293C>G

Surrounding Variants

1 paper

NM_001982.4

p.P98L

c.293C>T

1 paper

NM_001982.4

p.P98delFs

c.294delA

1 paper

NM_001982.4

p.P98T

c.292C>A

1 paper

NM_001982.4

p.L99V

c.295T>G

1 paper

NM_001982.4

p.L97R

c.290T>G

3 papers

NM_001982.4

p.L97V

c.289C>G

1 paper

NM_001982.4

p.T96_L97insFs

c.288_289insC

1 paper

NM_001982.4

p.P100R

c.299C>G

1 paper

NM_001982.4

p.T96A

c.286A>G

1 paper

NM_001982.4

p.N101I

c.302A>T

1 paper

NM_001982.4

p.S95F

c.284C>T

3 papers

NM_001982.4

p.N101K

c.303C>A