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

87 papers

NM_001042492.3

p.R1241*

c.3721C>T

Surrounding Variants

1 paper

NM_001042492.3

p.R1241insFs

c.3721_3722insA

1 paper

NM_001042492.3

p.R1241_V1244insFs

c.3723_3730dup8

2 papers

NM_001042492.3

p.R1241fs

c.3721_3722fs

1 paper

NM_001042492.3

p.R1241fs

c.3721_3722fs

5 papers

NM_001042492.3

p.R1241Q

c.3722G>A

1 paper

NM_001042492.3

p.R1241P

c.3722G>C

1 paper

NM_001042492.3

p.R1241insFs

c.3722_3723insA

1 paper

NM_001042492.3

p.R1241_V1244del0

c.3723_3731del9

1 paper

NM_001042492.3

p.R1241delFs

c.3721delC

1 paper

NM_001042492.3

p.A1240G

c.3719C>G

3 papers

NM_001042492.3

p.A1240T

c.3718G>A

1 paper

NM_001042492.3

p.V1242fs

c.3724_3725fs