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.R339P

c.1016G>C

Surrounding Variants

1 paper

NM_001982.4

p.R339H

c.1016G>A

1 paper

NM_001982.4

p.R339L

c.1016G>T

1 paper

NM_001982.4

p.S338R

c.1014C>A

1 paper

NM_001982.4

p.S338R

c.1014C>G

1 paper

NM_001982.4

p.F340L

c.1018T>C

1 paper

NM_001982.4

p.S338I

c.1013G>T

1 paper

NM_001982.4

p.F340S

c.1019T>C

1 paper

NM_001982.4

p.F340C

c.1019T>G

1 paper

NM_001982.4

p.S338R

c.1012A>C

1 paper

NM_001982.4

p.F340L

c.1020C>A

1 paper

NM_001982.4

p.F340L

c.1020C>G

1 paper

NM_001982.4

p.Q341E

c.1021C>G