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.L917S

c.2750T>C

Surrounding Variants

1 paper

NM_001982.4

p.L917W

c.2750T>G

1 paper

NM_001982.4

p.L917V

c.2749T>G

1 paper

NM_001982.4

p.A918T

c.2752G>A

1 paper

NM_001982.4

p.R916*

c.2746C>T

1 paper

NM_001982.4

p.E919K

c.2755G>A

1 paper

NM_001982.4

p.E919Q

c.2755G>C

1 paper

NM_001982.4

p.E919insFs

c.2755_2756insC

1 paper

NM_001982.4

p.E919V

c.2756A>T

1 paper

NM_001982.4

p.L915Q

c.2744T>A

1 paper

NM_001982.4

p.L915P

c.2744T>C

1 paper

NM_001982.4

p.L915R

c.2744T>G

1 paper

NM_001982.4

p.E919D

c.2757A>C