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

18 papers

NM_005235.3

p.R927Q

c.2780G>A

Surrounding Variants

1 paper

NM_005235.3

p.R927L

c.2780G>T

8 papers

NM_005235.3

p.R927*

c.2779C>T

2 papers

NM_005235.3

p.E928*

c.2782G>T

1 paper

NM_005235.3

p.E928K

c.2782G>A

13 papers

NM_005235.3

p.T926M

c.2777C>T

1 paper

NM_005235.3

p.T926K

c.2777C>A

3 papers

NM_005235.3

p.E928G

c.2783A>G

2 papers

NM_005235.3

p.E928D

c.2784A>T

2 papers

NM_005235.3

p.T926A

c.2776A>G

2 papers

NM_005235.3

p.E928D

c.2784A>C

1 paper

NM_005235.3

p.I929T

c.2786T>C

3 papers

NM_005235.3

p.P925L

c.2774C>T