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.P933T

c.2797C>A

Surrounding Variants

1 paper

NM_001982.4

p.P933fs

c.2797_2798fs

1 paper

NM_001982.4

p.P933L

c.2798C>T

1 paper

NM_001982.4

p.Q932H

c.2796G>C

1 paper

NM_001982.4

p.Q932H

c.2796G>T

1 paper

NM_001982.4

p.P933delFs

c.2797delC

3 papers

NM_001982.4

p.Q932R

c.2795A>G

1 paper

NM_001982.4

p.Q932L

c.2795A>T

1 paper

NM_001982.4

p.Q934E

c.2800C>G

1 paper

NM_001982.4

p.Q934*

c.2800C>T

1 paper

NM_001982.4

p.Q934R

c.2801A>G

3 papers

NM_001982.4

p.Q934H

c.2802G>C

3 papers

NM_001982.4

p.Q934H

c.2802G>T