Varaico: Literature-Extracted Genetic Variants

ERBB2

4,814 papers

RefSeq Summary

This gene encodes a member of the epidermal growth factor (EGF) receptor family of receptor tyrosine kinases. This protein has no ligand binding domain of its own and therefore cannot bind growth fact...

Pfam Domains

Recep_L_domainaa 52–173UCSCReceptor L domain

Furin-likeaa 183–343UCSCFurin-like cysteine rich region

Recep_L_domainaa 366–486UCSCReceptor L domain

GF_recep_IVaa 480–603UCSCGrowth factor receptor domain IV

Gene Aliases

HGNC Name

erb-b2 receptor tyrosine kinase 2

HGNC Previous Symbol

NGL

Papers

RefSeq ID

Protein change

DNA change

1–12 of 3585 variants

494 papers

NM_004448.4

p.S310F

c.929C>T

385 papers

NM_004448.4

p.L755S

c.2264T>C

355 papers

NM_004448.4

p.V777L

c.2329G>T

351 papers

NM_004448.4

p.V777L

c.2329G>C

279 papers

NM_004448.4

p.V842I

c.2524G>A

228 papers

NM_004448.4

p.R678Q

c.2033G>A

226 papers

NM_004448.4

p.I655V

c.1963A>G

196 papers

NM_004448.4

p.D769Y

c.2305G>T

182 papers

NM_004448.4

p.S310Y

c.929C>A

152 papers

NM_004448.4

p.D769H

c.2305G>C

134 papers

NM_004448.4

p.H1047R

c.3140A>G

113 papers

NM_004448.4

p.E542K

c.1624G>A