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

10 papers

NM_001982.4

p.N126K

c.378C>G

Surrounding Variants

10 papers

NM_001982.4

p.N126K

c.378C>A

1 paper

NM_001982.4

p.N126N

c.378C>T

3 papers

NM_001982.4

p.N126I

c.377A>T

1 paper

NM_001982.4

p.N126D

c.376A>G

1 paper

NM_001982.4

p.S127C

c.380C>G

1 paper

NM_001982.4

p.T125T

c.375C>G

5 papers

NM_001982.4

p.S128R

c.382A>C

1 paper

NM_001982.4

p.T125S

c.374C>G

1 paper

NM_001982.4

p.T125S

c.373A>T

2 papers

NM_001982.4

p.S128N

c.383G>A

1 paper

NM_001982.4

p.S128T

c.383G>C

1 paper

NM_001982.4

p.S128I

c.383G>T