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

2 papers

NM_000267.3

p.R1748Q

c.5243G>A

NM_001042492.3

p.R1769Q

c.5306G>A

Surrounding Variants

3 papers

NM_000267.3

p.R1748P

c.5243G>C

NM_001042492.3

p.R1769P

c.5306G>C

1 paper

NM_001042492.3

p.R1769L

c.5306G>T

1 paper

NM_001042492.3

p.R1769fs

c.5305_5306fs

46 papers

NM_001042492.3

p.R1769*

c.5305C>T

NM_000267.3

p.R1748*

c.5242C>T

1 paper

NM_001042492.3

p.R1769delFs

c.5306delG

1 paper

NM_001042492.3

p.T1770fs

c.5308_5309fs

1 paper

NM_000267.3

p.E1747A

c.5240A>C

1 paper

NM_001042492.3

p.E1768delFs

c.5304delG

2 papers

NM_000267.3

p.K1750del1

c.5248_5249delAAA

2 papers

NM_001042492.3

p.E1768delFs

c.5303delA

1 paper

NM_001042492.3

p.K1771fs

c.5311_5312fs

4 papers

NM_000267.3

p.K1750E

c.5248A>G

NM_001042492.3

p.K1771E

c.5311A>G