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.E560delFs

c.1680delG

Surrounding Variants

1 paper

NM_001982.4

p.E560K

c.1678G>A

1 paper

NM_001982.4

p.E560Q

c.1678G>C

1 paper

NM_001982.4

p.E560D

c.1680G>C

1 paper

NM_001982.4

p.E560fs

c.1678_1679fs

1 paper

NM_001982.4

p.E560D

c.1680G>T

1 paper

NM_001982.4

p.E560delFs

c.1679delA

1 paper

NM_001982.4

p.M559I

c.1677G>A

1 paper

NM_001982.4

p.M559I

c.1677G>C

1 paper

NM_001982.4

p.G561R

c.1681G>C

1 paper

NM_001982.4

p.M559I

c.1677G>T

1 paper

NM_001982.4

p.G561A

c.1682G>C

1 paper

NM_001982.4

p.M559R

c.1676T>G