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.K324delFs

c.972delT

Surrounding Variants

1 paper

NM_005235.3

p.P325S

c.973C>T

1 paper

NM_005235.3

p.P325T

c.973C>A

4 papers

NM_005235.3

p.P325L

c.974C>T

1 paper

NM_005235.3

p.K324N

c.972A>T

1 paper

NM_005235.3

p.K324K

c.972A>G

1 paper

NM_005235.3

p.K324N

c.972A>C

1 paper

NM_005235.3

p.K324R

c.971A>G

1 paper

NM_005235.3

p.C323fs

c.967_968fs

1 paper

NM_005235.3

p.C326Y

c.977G>A

1 paper

NM_005235.3

p.C326W

c.978C>G

1 paper

NM_005235.3

p.M322fs

c.964_965fs

1 paper

NM_005235.3

p.T327I

c.980C>T