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.N706S

c.2117A>G

Surrounding Variants

1 paper

NM_005235.3

p.N706I

c.2117A>T

3 papers

NM_005235.3

p.N706D

c.2116A>G

3 papers

NM_005235.3

p.Q707E

c.2119C>G

1 paper

NM_005235.3

p.P705L

c.2114C>T

1 paper

NM_005235.3

p.P705H

c.2114C>A

2 papers

NM_005235.3

p.P705S

c.2113C>T

1 paper

NM_005235.3

p.Q707Q

c.2121A>G

3 papers

NM_005235.3

p.A708T

c.2122G>A

1 paper

NM_005235.3

p.A704V

c.2111C>T

1 paper

NM_005235.3

p.A704T

c.2110G>A

1 paper

NM_005235.3

p.T703I

c.2108C>T

4 papers

NM_005235.3

p.T703K

c.2108C>A