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.Q558H

c.1674G>C

Surrounding Variants

2 papers

NM_005235.3

p.Q558H

c.1674G>T

1 paper

NM_005235.3

p.Q558fs

c.1672_1673fs

1 paper

NM_005235.3

p.Q558R

c.1673A>G

1 paper

NM_005235.3

p.Q558delFs

c.1672delG

1 paper

NM_005235.3

p.E560K

c.1678G>A

1 paper

NM_005235.3

p.D556H

c.1666G>C

1 paper

NM_005235.3

p.M562V

c.1684A>G

1 paper

NM_005235.3

p.C555R

c.1663T>C

3 papers

NM_005235.3

p.E554D

c.1662G>T

1 paper

NM_005235.3

p.M562I

c.1686G>T

3 papers

NM_005235.3

p.E554D

c.1662G>C

11 papers

NM_005235.3

p.E563K

c.1687G>A