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.P2651delFs

c.7951delC

Surrounding Variants

1 paper

NM_001042492.3

p.P2651fs

c.7951_7952fs

1 paper

NM_001042492.3

p.F2650Y

c.7949T>A

1 paper

NM_001042492.3

p.P2651L

c.7952C>T

1 paper

NM_000267.3

p.F2629fs

c.7885_7886fs

1 paper

NM_001042492.3

p.F2650insFs

c.7949_7950dupTT

1 paper

NM_001042492.3

p.K2652_V2656insFs

c.7955_7968dup14

1 paper

NM_001042492.3

p.K2652E

c.7954A>G

1 paper

NM_001042492.3

p.V2649M

c.7945G>A

2 papers

NM_001042492.3

p.V2653fs

c.7957_7958fs

1 paper

NM_001042492.3

p.V2648insFs

c.7943_7944insC

3 papers

NM_000267.3

p.V2628_F2629delFs

c.7884_7885delGT

NM_001042492.3

p.V2648_V2649delFs

c.7944_7945delTG

1 paper

NM_000267.3

p.S2626delFs

c.7877delG