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_000267.3

p.R2226insFs

c.6677dupG

Surrounding Variants

1 paper

NM_001042492.3

p.R2247_L2249delFs

c.6741_6747del7

1 paper

NM_001042492.3

p.A2248T

c.6742G>A

1 paper

NM_000267.3

p.A2227fs

c.6679_6680fs

1 paper

NM_001042492.3

p.P2246_F2252del0

c.6736_6756del21

8 papers

NM_001042492.3

p.Q2245*

c.6733C>T

NM_000267.3

p.Q2224*

c.6670C>T

1 paper

NM_001042492.3

p.L2249F

c.6745C>T

1 paper

NM_001042492.3

p.L2249delFs

c.6747delT

1 paper

NM_001042492.3

p.L2249_V2250del1

c.6747_6749delTGT

NM_000267.3

p.V2229_V2230del1

c.6687_6689delTGT

1 paper

NM_001042492.3

p.L2244fs

c.6730_6731fs

1 paper

NM_001042492.3

p.L2244insFs

c.6731dupT

1 paper

NM_001042492.3

p.V2250I

c.6748G>A

1 paper

NM_001042492.3

p.L2244_Q2245delFs

c.6730_6734del5