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.R929L

c.2786G>T

Surrounding Variants

1 paper

NM_001982.4

p.R929Q

c.2786G>A

1 paper

NM_001982.4

p.R929P

c.2786G>C

1 paper

NM_001982.4

p.R929G

c.2785C>G

2 papers

NM_001982.4

p.R929W

c.2785C>T

1 paper

NM_001982.4

p.L930M

c.2788T>A

1 paper

NM_001982.4

p.L930L

c.2788T>C

3 papers

NM_001982.4

p.E928A

c.2783A>C

75 papers

NM_001982.4

p.E928G

c.2783A>G

1 paper

NM_001982.4

p.E928V

c.2783A>T

1 paper

NM_001982.4

p.L930W

c.2789T>G

4 papers

NM_001982.4

p.E928K

c.2782G>A

2 papers

NM_001982.4

p.E928Q

c.2782G>C