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.M951I

c.2853G>A

Surrounding Variants

1 paper

NM_005235.3

p.M951I

c.2853G>T

1 paper

NM_005235.3

p.M951I

c.2853G>C

1 paper

NM_005235.3

p.V952F

c.2854G>T

1 paper

NM_005235.3

p.Y950*

c.2850C>G

1 paper

NM_005235.3

p.V952fs

c.2854_2855fs

1 paper

NM_005235.3

p.Y950fs

c.2848_2849fs

1 paper

NM_005235.3

p.Y950*

c.2850C>A

1 paper

NM_005235.3

p.V952delFs

c.2854_2855delAC

1 paper

NM_005235.3

p.V949_M951del0

c.2845_2853del9

1 paper

NM_005235.3

p.M953fs

c.2857_2858fs

1 paper

NM_005235.3

p.Y950delFs

c.2848delA

1 paper

NM_005235.3

p.Y950H

c.2848T>C