Varaico: Literature-Extracted Genetic Variants

Gene:ERBB3
Variant:p.M905L

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.M905L
c.2713A>C
Surrounding Variants
1 paper
NM_001982.4
p.M905L
c.2713A>T
1 paper
NM_001982.4
p.L904F
c.2712G>C
1 paper
NM_001982.4
p.L904F
c.2712G>T
1 paper
NM_001982.4
p.M905I
c.2715G>A
1 paper
NM_001982.4
p.M905I
c.2715G>C
1 paper
NM_001982.4
p.M905I
c.2715G>T
1 paper
NM_001982.4
p.T906P
c.2716A>C
1 paper
NM_001982.4
p.T906A
c.2716A>G
4 papers
NM_001982.4
p.T906S
c.2716A>T
1 paper
NM_001982.4
p.T906N
c.2717C>A
4 papers
NM_001982.4
p.T906S
c.2717C>G
1 paper
NM_001982.4
p.E903D
c.2709G>C
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