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.L2249F

c.6745C>T

Surrounding Variants

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.A2248T

c.6742G>A

1 paper

NM_001042492.3

p.V2250I

c.6748G>A

1 paper

NM_000267.3

p.A2227fs

c.6679_6680fs

1 paper

NM_001042492.3

p.R2247_L2249delFs

c.6741_6747del7

1 paper

NM_000267.3

p.V2230delFs

c.6688delG

1 paper

NM_000267.3

p.V2230del1

c.6688_6689delGTC

1 paper

NM_000267.3

p.R2226insFs

c.6677dupG

1 paper

NM_001042492.3

p.V2251F

c.6751G>T

2 papers

NM_000267.3

p.V2230fs

c.6688_6689fs

1 paper

NM_001042492.3

p.P2246_F2252del0

c.6736_6756del21