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.K2R

c.5A>G

Surrounding Variants

1 paper

NM_005235.3

p.K2M

c.5A>T

1 paper

NM_005235.3

p.K2N

c.6G>T

1 paper

NM_005235.3

p.K2_P3insFs

c.6_7insTT

1 paper

NM_005235.3

p.K2N

c.6G>C

1 paper

NM_005235.3

p.M1fs

c.1_2fs

1 paper

NM_005235.3

p.M1_K2insFs

c.3_4insA

1 paper

NM_005235.3

p.M1I

c.3G>A

1 paper

NM_005235.3

p.P3insFs

c.7_8insT

1 paper

NM_005235.3

p.M1insFs

c.1dupA

2 papers

NM_005235.3

p.M1K

c.2T>A

1 paper

NM_005235.3

p.M1delFs

c.1delT

1 paper

NM_005235.3

p.P3Q

c.8C>A