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.L121S

c.362T>C

Surrounding Variants

1 paper

NM_005235.3

p.L121I

c.361T>A

1 paper

NM_005235.3

p.I119_F120del2

c.355_359del6

1 paper

NM_005235.3

p.F120_L121insCT

c.358_362ins6

1 paper

NM_005235.3

p.F120I

c.358T>A

1 paper

NM_005235.3

p.N122K

c.366C>G

1 paper

NM_005235.3

p.N122K

c.366C>A

1 paper

NM_005235.3

p.Y123N

c.367T>A

1 paper

NM_005235.3

p.Y123C

c.368A>G

1 paper

NM_005235.3

p.I119L

c.355A>T

1 paper

NM_005235.3

p.I119L

c.355A>C

2 papers

NM_005235.3

p.R124G

c.370A>G

1 paper

NM_005235.3

p.R124I

c.371G>T