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.A871fs

c.2611_2612fs

Surrounding Variants

1 paper

NM_001982.4

p.A871P

c.2611G>C

1 paper

NM_001982.4

p.A871S

c.2611G>T

1 paper

NM_001982.4

p.A871D

c.2612C>A

1 paper

NM_001982.4

p.A871G

c.2612C>G

1 paper

NM_001982.4

p.E870D

c.2610G>C

1 paper

NM_001982.4

p.E870D

c.2610G>T

1 paper

NM_001982.4

p.E870V

c.2609A>T

1 paper

NM_001982.4

p.K872Q

c.2614A>C

1 paper

NM_001982.4

p.K872E

c.2614A>G

1 paper

NM_001982.4

p.K872*

c.2614A>T

1 paper

NM_001982.4

p.E870K

c.2608G>A

1 paper

NM_001982.4

p.E870Q

c.2608G>C