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.Q709R

c.2126A>G

Surrounding Variants

1 paper

NM_005235.3

p.Q709P

c.2126A>C

3 papers

NM_005235.3

p.L710R

c.2129T>G

3 papers

NM_005235.3

p.A708T

c.2122G>A

20 papers

NM_005235.3

p.R711C

c.2131C>T

2 papers

NM_005235.3

p.R711G

c.2131C>G

2 papers

NM_005235.3

p.R711S

c.2131C>A

1 paper

NM_005235.3

p.Q707Q

c.2121A>G

2 papers

NM_005235.3

p.R711L

c.2132G>T

4 papers

NM_005235.3

p.R711H

c.2132G>A

3 papers

NM_005235.3

p.Q707E

c.2119C>G

1 paper

NM_005235.3

p.I712S

c.2135T>G

1 paper

NM_005235.3

p.N706I

c.2117A>T