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

10 papers

NM_001982.4

p.D297N

c.889G>A

Surrounding Variants

7 papers

NM_001982.4

p.D297H

c.889G>C

70 papers

NM_001982.4

p.D297Y

c.889G>T

1 paper

NM_001982.4

p.D297fs

c.889_890fs

2 papers

NM_001982.4

p.D297A

c.890A>C

1 paper

NM_001982.4

p.D297G

c.890A>G

8 papers

NM_001982.4

p.D297V

c.890A>T

4 papers

NM_001982.4

p.D297E

c.891T>A

1 paper

NM_001982.4

p.V296E

c.887T>A

4 papers

NM_001982.4

p.D297E

c.891T>G

1 paper

NM_001982.4

p.Q298E

c.892C>G

3 papers

NM_001982.4

p.V296M

c.886G>A

1 paper

NM_001982.4

p.V296L

c.886G>C