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

1 paper

NM_005235.3

p.F297_V298delFs

c.890_893del4

Surrounding Variants

1 paper

NM_005235.3

p.V298fs

c.892_893fs

1 paper

NM_005235.3

p.V298V

c.894G>A

1 paper

NM_005235.3

p.V298E

c.893T>A

1 paper

NM_005235.3

p.V298delFs

c.892delC

1 paper

NM_005235.3

p.V299L

c.895G>T

1 paper

NM_005235.3

p.V299L

c.895G>C

3 papers

NM_005235.3

p.V299I

c.895G>A

1 paper

NM_005235.3

p.V299A

c.896T>C

1 paper

NM_005235.3

p.V299E

c.896T>A

4 papers

NM_005235.3

p.V298M

c.892G>A

1 paper

NM_005235.3

p.V298fs

c.892_893fs

1 paper

NM_005235.3

p.F297fs

c.889_890fs