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.P307L

c.920C>T

Surrounding Variants

1 paper

NM_001982.4

p.P307S

c.919C>T

1 paper

NM_001982.4

p.D308H

c.922G>C

1 paper

NM_001982.4

p.D308Y

c.922G>T

1 paper

NM_001982.4

p.D308fs

c.922_923fs

1 paper

NM_001982.4

p.D308A

c.923A>C

1 paper

NM_001982.4

p.D308G

c.923A>G

3 papers

NM_001982.4

p.P306H

c.917C>A

7 papers

NM_001982.4

p.P306R

c.917C>G

1 paper

NM_001982.4

p.P306L

c.917C>T

1 paper

NM_001982.4

p.D308E

c.924C>A

1 paper

NM_001982.4

p.P306A

c.916C>G

1 paper

NM_001982.4

p.D308E

c.924C>G