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.N275_P276del0

c.823_828del6

Surrounding Variants

1 paper

NM_001982.4

p.E273D

c.819A>C

1 paper

NM_001982.4

p.E273E

c.819A>G

1 paper

NM_001982.4

p.E273D

c.819A>T

1 paper

NM_001982.4

p.E273A

c.818A>C

1 paper

NM_001982.4

p.P274R

c.821C>G

1 paper

NM_001982.4

p.E273K

c.817G>A

1 paper

NM_001982.4

p.N275Y

c.823A>T

1 paper

NM_001982.4

p.N275I

c.824A>T

1 paper

NM_001982.4

p.L272V

c.814C>G

1 paper

NM_001982.4

p.N275K

c.825T>A

1 paper

NM_001982.4

p.N275K

c.825T>G

1 paper

NM_001982.4

p.Q271P

c.812A>C