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

1–12 of 3300 variants

120 papers

NM_001982.4

p.V104M

c.310G>A

110 papers

NM_001982.4

p.G284R

c.850G>C

109 papers

NM_001982.4

p.G284R

c.850G>A

95 papers

NM_001982.4

p.V104L

c.310G>T

93 papers

NM_001982.4

p.V104L

c.310G>C

75 papers

NM_001982.4

p.E928G

c.2783A>G

70 papers

NM_001982.4

p.D297Y

c.889G>T

63 papers

NM_001982.4

p.L858R

c.2573T>G

41 papers

NM_001982.4

p.A232V

c.695C>T

39 papers

NM_001982.4

p.E332K

c.994G>A

37 papers

NM_001982.4

p.T355I

c.1064C>T

30 papers

NM_001982.4

p.M91I

c.273G>A