Varaico: Literature-Extracted Genetic Variants

ERBB3

1,503 papers

RefSeq Summary

This gene encodes a member of the epidermal growth factor receptor (EGFR) family of receptor tyrosine kinases. This membrane-bound protein has a neuregulin binding domain but not an active kinase doma...

Pfam Domains

Recep_L_domainaa 55–167UCSCReceptor L domain

Furin-likeaa 170–332UCSCFurin-like cysteine rich region

Recep_L_domainaa 353–474UCSCReceptor L domain

GF_recep_IVaa 499–630UCSCGrowth factor receptor domain IV

PK_Tyr_Ser-Thraa 709–965UCSCProtein tyrosine and serine/threonine kinase

Gene Aliases

HGNC Name

erb-b2 receptor tyrosine kinase 3

HGNC Previous Symbol

LCCS2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001982.4

p.A836P

c.2506G>C

Surrounding Variants

1 paper

NM_001982.4

p.A836G

c.2507C>G

1 paper

NM_001982.4

p.L835P

c.2504T>C

2 papers

NM_001982.4

p.A837T

c.2509G>A

1 paper

NM_001982.4

p.A837fs

c.2509_2510fs

1 paper

NM_001982.4

p.A837delFs

c.2510delC

1 paper

NM_001982.4

p.N834K

c.2502C>A

1 paper

NM_001982.4

p.N834K

c.2502C>G

1 paper

NM_001982.4

p.R838G

c.2512C>G

1 paper

NM_001982.4

p.R833S

c.2499A>C

1 paper

NM_001982.4

p.R833S

c.2499A>T

1 paper

NM_001982.4

p.R838Q

c.2513G>A

1 paper

NM_001982.4

p.R838P

c.2513G>C