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.K207T

c.620A>C

Surrounding Variants

1 paper

NM_001982.4

p.K207N

c.621G>C

1 paper

NM_001982.4

p.K207N

c.621G>T

1 paper

NM_001982.4

p.K207_T208delins

c.621_622delinsCC

1 paper

NM_001982.4

p.T206P

c.616A>C

1 paper

NM_001982.4

p.I209S

c.626T>G

1 paper

NM_001982.4

p.L205fs

c.613_614fs

1 paper

NM_001982.4

p.I209M

c.627C>G

1 paper

NM_001982.4

p.L205_A211delFs

c.614_632del19

1 paper

NM_001982.4

p.L205_A211delFs

c.614_633del20

1 paper

NM_001982.4

p.C210F

c.629G>T

1 paper

NM_001982.4

p.C210W

c.630T>G

1 paper

NM_001982.4

p.A211T

c.631G>A