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.A1761S

c.5281G>T

Surrounding Variants

1 paper

NM_001042492.3

p.A1761P

c.5281G>C

1 paper

NM_000267.3

p.A1740fs

c.5218_5219fs

1 paper

NM_000267.3

p.A1740delFs

c.5220delT

1 paper

NM_001042492.3

p.V1762_Q1763delFs

c.5284_5287del4

1 paper

NM_001042492.3

p.T1760A

c.5278A>G

1 paper

NM_001042492.3

p.S1759C

c.5276C>G

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

1 paper

NM_001042492.3

p.T1760del1

c.5278_5279delACT

1 paper

NM_000267.3

p.S1738_T1739delFs

c.5213_5216del4