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.T1574delFs

c.4722delT

Surrounding Variants

1 paper

NM_001042492.3

p.T1574insFs

c.4721dupC

1 paper

NM_000267.3

p.R1554T

c.4661G>C

1 paper

NM_001042492.3

p.M1573_T1574insFs

c.4719_4720dupGA

2 papers

NM_000267.3

p.R1554Splc

c.4661+1G>A

NM_001042492.3

p.R1575Splc

c.4724+1G>A

2 papers

NM_000267.3

p.R1554Splc

c.4661+1G>C

1 paper

NM_001042492.3

p.R1575Splc

c.4724+1G>T

1 paper

NM_001042492.3

p.R1575Splc

c.4724+2T>A

1 paper

NM_001042492.3

p.R1575Splc

c.4724+2T>G

1 paper

NM_001042492.3

p.R1575Splc

c.4724+3A>G

2 papers

NM_001042492.3

p.F1572S

c.4715T>C

1 paper

NM_001042492.3

p.F1572fs

c.4714_4715fs

2 papers

NM_001042492.3

p.F1572delFs

c.4716delT