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

37 papers

NM_001982.4

p.T355I

c.1064C>T

Surrounding Variants

3 papers

NM_001982.4

p.T355N

c.1064C>A

3 papers

NM_001982.4

p.T355S

c.1064C>G

4 papers

NM_001982.4

p.T355P

c.1063A>C

11 papers

NM_001982.4

p.T355A

c.1063A>G

3 papers

NM_001982.4

p.T355S

c.1063A>T

1 paper

NM_001982.4

p.K356E

c.1066A>G

1 paper

NM_001982.4

p.C354W

c.1062C>G

1 paper

NM_001982.4

p.K356T

c.1067A>C

1 paper

NM_001982.4

p.K356R

c.1067A>G

1 paper

NM_001982.4

p.C354S

c.1061G>C

2 papers

NM_001982.4

p.K356N

c.1068G>C

2 papers

NM_001982.4

p.K356N

c.1068G>T