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

1 paper

NM_001042492.3

p.Q1341Q

c.4023G>A

Surrounding Variants

1 paper

NM_001042492.3

p.M1342V

c.4024A>G

1 paper

NM_001042492.3

p.Q1341L

c.4022A>T

11 papers

NM_001042492.3

p.Q1341*

c.4021C>T

2 papers

NM_001042492.3

p.M1342I

c.4026G>A

2 papers

NM_001042492.3

p.M1342I

c.4026G>C

2 papers

NM_001042492.3

p.M1342I

c.4026G>T

1 paper

NM_001042492.3

p.L1340L

c.4020T>C

1 paper

NM_001042492.3

p.T1343P

c.4027A>C

2 papers

NM_001042492.3

p.T1343insFs

c.4029dupT

2 papers

NM_001042492.3

p.L1340F

c.4018C>T

1 paper

NM_001042492.3

p.T1343I

c.4028C>T

1 paper

NM_001042492.3

p.E1344_F1346delFs

c.4030_4037del8