Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

8 papers

NM_001042492.3

p.K615N

c.1845G>C

Surrounding Variants

4 papers

NM_001042492.3

p.K615K

c.1845G>A

9 papers

NM_001042492.3

p.K615N

c.1845G>T

1 paper

NM_001042492.3

p.K615R

c.1844A>G

11 papers

NM_001042492.3

p.K615_Q616Splc

c.1845+1G>A

1 paper

NM_001042492.3

p.K615_Q616Splc

c.1845+1G>C

2 papers

NM_001042492.3

p.K615_Q616Splc

c.1845+1G>T

2 papers

NM_001042492.3

p.K615fs

c.1843_1844fs

1 paper

NM_001042492.3

p.K615_Q616Splc

c.1845+2T>A

1 paper

NM_001042492.3

p.K615_Q616Splc

c.1845+2T>C

1 paper

NM_001042492.3

p.K615_Q616Splc

c.1845+3A>C

1 paper

NM_001042492.3

p.K615delFs

c.1844delA

1 paper

NM_001042492.3

p.N614_K615delFs

c.1842_1845del4