Varaico: Literature-Extracted Genetic Variants

ERBB4

1,485 papers

RefSeq Summary

This gene is a member of the Tyr protein kinase family and the epidermal growth factor receptor subfamily. It encodes a single-pass type I membrane protein with multiple cysteine rich domains, a trans...

Pfam Domains

Recep_L_domainaa 55–167UCSCReceptor L domain

Furin-likeaa 176–335UCSCFurin-like cysteine rich region

Recep_L_domainaa 358–478UCSCReceptor L domain

GF_recep_IVaa 502–634UCSCGrowth factor receptor domain IV

TM_ErbB1aa 653–688UCSCEpidermal growth factor receptor transmembrane-juxtamembrane segment

PK_Tyr_Ser-Thraa 718–974UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

erb-b2 receptor tyrosine kinase 4

HGNC Alias Symbols

ALS19; HER4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_005235.3

p.Y111H

c.331T>C

Surrounding Variants

1 paper

NM_005235.3

p.Y111C

c.332A>G

2 papers

NM_005235.3

p.L110R

c.329T>G

2 papers

NM_005235.3

p.L110V

c.328C>G

2 papers

NM_005235.3

p.D113N

c.337G>A

2 papers

NM_005235.3

p.D113V

c.338A>T

2 papers

NM_005235.3

p.T108I

c.323C>T

4 papers

NM_005235.3

p.R114*

c.340C>T

1 paper

NM_005235.3

p.T108A

c.322A>G

4 papers

NM_005235.3

p.R114Q

c.341G>A

1 paper

NM_005235.3

p.G107V

c.320G>T

2 papers

NM_005235.3

p.Y115N

c.343T>A

1 paper

NM_005235.3

p.G107R

c.319G>C