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.I80F

c.238A>T

Surrounding Variants

1 paper

NM_001982.4

p.I80L

c.238A>C

1 paper

NM_001982.4

p.W79C

c.237G>C

2 papers

NM_001982.4

p.W79C

c.237G>T

1 paper

NM_001982.4

p.W79L

c.236G>T

1 paper

NM_001982.4

p.R81*

c.241C>T

1 paper

NM_001982.4

p.W79R

c.235T>A

5 papers

NM_001982.4

p.R81Q

c.242G>A

1 paper

NM_001982.4

p.E82*

c.244G>T

1 paper

NM_001982.4

p.E82A

c.245A>C

2 papers

NM_001982.4

p.E82V

c.245A>T

1 paper

NM_001982.4

p.E82D

c.246A>T

1 paper

NM_001982.4

p.V83L

c.247G>C