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.L364V

c.1090C>G

Surrounding Variants

1 paper

NM_001982.4

p.I365_T366delFs

c.1093_1096del4

1 paper

NM_001982.4

p.I365L

c.1093A>C

1 paper

NM_001982.4

p.I365S

c.1094T>G

1 paper

NM_001982.4

p.D362A

c.1085A>C

1 paper

NM_001982.4

p.I365M

c.1095C>G

1 paper

NM_001982.4

p.T366delFs

c.1096delA

1 paper

NM_001982.4

p.T366S

c.1096A>T

1 paper

NM_001982.4

p.D362N

c.1084G>A

1 paper

NM_001982.4

p.D362H

c.1084G>C

1 paper

NM_001982.4

p.D362Y

c.1084G>T

1 paper

NM_001982.4

p.T366S

c.1097C>G

1 paper

NM_001982.4

p.T366T

c.1098C>T