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

21 papers

NM_005235.3

p.E141Splc

c.421+58A>G

Surrounding Variants

1 paper

NM_005235.3

p.E141Splc

c.421+58A>T

2 papers

NM_005235.3

p.E141Splc

c.421+95A>G

2 papers

NM_005235.3

p.E141Splc

c.421+5G>A

1 paper

NM_005235.3

p.E141Splc

c.421+1G>T

1 paper

NM_005235.3

p.E141K

c.421G>A

10 papers

NM_005235.3

p.T140I

c.419C>T

2 papers

NM_005235.3

p.T140A

c.418A>G

1 paper

NM_005235.3

p.L139L

c.415T>C

1 paper

NM_005235.3

p.N138S

c.413A>G

1 paper

NM_005235.3

p.N138D

c.412A>G

1 paper

NM_005235.3

p.K137N

c.411G>T

1 paper

NM_005235.3

p.K137N

c.411G>C