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

2 papers

NM_005235.3

p.C221Y

c.662G>A

Surrounding Variants

2 papers

NM_005235.3

p.C221F

c.662G>T

1 paper

NM_005235.3

p.C221delFs

c.662delC

1 paper

NM_005235.3

p.R220I

c.659G>T

2 papers

NM_005235.3

p.R220T

c.659G>C

1 paper

NM_005235.3

p.R220K

c.659G>A

1 paper

NM_005235.3

p.Y222Y

c.666C>T

6 papers

NM_005235.3

p.G223R

c.667G>C

6 papers

NM_005235.3

p.G223R

c.667G>A

1 paper

NM_005235.3

p.G223V

c.668G>T

4 papers

NM_005235.3

p.G219D

c.656G>A

1 paper

NM_005235.3

p.G219C

c.655G>T

5 papers

NM_005235.3

p.G219S

c.655G>A