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.Q1763R

c.5288A>G

Surrounding Variants

2 papers

NM_001042492.3

p.Q1763L

c.5288A>T

1 paper

NM_001042492.3

p.Q1763Q

c.5289A>G

1 paper

NM_001042492.3

p.V1764delFs

c.5290delG

2 papers

NM_001042492.3

p.Q1763_V1764insFs

c.5289_5290insAA

1 paper

NM_000267.3

p.Q1742_V1743insA

c.5224_5228ins3

7 papers

NM_000267.3

p.Q1742*

c.5224C>T

NM_001042492.3

p.Q1763*

c.5287C>T

1 paper

NM_001042492.3

p.V1764_T1765delFs

c.5290_5293del4

3 papers

NM_001042492.3

p.V1764I

c.5290G>A

2 papers

NM_001042492.3

p.V1764L

c.5290G>T

1 paper

NM_001042492.3

p.V1764fs

c.5290_5291fs

1 paper

NM_000267.3

p.V1743Fs

c.5227_5229delinsTFs

1 paper

NM_001042492.3

p.T1765A

c.5293A>G