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.Q849K

c.2545C>A

Surrounding Variants

2 papers

NM_001982.4

p.V850M

c.2548G>A

1 paper

NM_001982.4

p.V848I

c.2542G>A

1 paper

NM_001982.4

p.V850L

c.2548G>C

1 paper

NM_001982.4

p.V850L

c.2548G>T

1 paper

NM_001982.4

p.V850A

c.2549T>C

1 paper

NM_001982.4

p.Q847R

c.2540A>G

2 papers

NM_001982.4

p.Q847E

c.2539C>G

1 paper

NM_001982.4

p.Q847*

c.2539C>T

1 paper

NM_001982.4

p.A851G

c.2552C>G

1 paper

NM_001982.4

p.S846R

c.2538T>A

1 paper

NM_001982.4

p.S846R

c.2538T>G

19 papers

NM_001982.4

p.S846I

c.2537G>T