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.S303S

c.909T>C

Surrounding Variants

13 papers

NM_005235.3

p.S303F

c.908C>T

19 papers

NM_005235.3

p.S303Y

c.908C>A

1 paper

NM_005235.3

p.S303P

c.907T>C

1 paper

NM_005235.3

p.S303T

c.907T>A

3 papers

NM_005235.3

p.C304F

c.911G>T

1 paper

NM_005235.3

p.C304Y

c.911G>A

1 paper

NM_005235.3

p.S302ins1

c.905_906insGAG

1 paper

NM_005235.3

p.S302R

c.906T>G

1 paper

NM_005235.3

p.V305L

c.913G>T

1 paper

NM_005235.3

p.V305L

c.913G>C

2 papers

NM_005235.3

p.V305M

c.913G>A

2 papers

NM_005235.3

p.S302N

c.905G>A