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

3 papers

NM_001042492.3

p.Q20_L21Splc

c.60+1G>C

Surrounding Variants

4 papers

NM_001042492.3

p.Q20_L21Splc

c.60+1G>A

5 papers

NM_001042492.3

p.Q20_L21Splc

c.60+1G>T

6 papers

NM_001042492.3

p.Q20Q

c.60G>A

5 papers

NM_001042492.3

p.Q20H

c.60G>C

4 papers

NM_001042492.3

p.Q20H

c.60G>T

1 paper

NM_001042492.3

p.Q20_L21Splc

c.60+2T>C

1 paper

NM_001042492.3

p.Q20_L21Splc

c.60+2T>G

2 papers

NM_001042492.3

p.Q20P

c.59A>C

3 papers

NM_001042492.3

p.Q20R

c.59A>G

6 papers

NM_001042492.3

p.Q20L

c.59A>T

1 paper

NM_001042492.3

p.Q20K

c.58C>A

2 papers

NM_001042492.3

p.Q20E

c.58C>G