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.K1263E

c.3787A>G

Surrounding Variants

3 papers

NM_001042492.3

p.K1263*

c.3787A>T

1 paper

NM_001042492.3

p.E1264_V1265del2

c.3790_3794del6

2 papers

NM_001042492.3

p.K1263delFs

c.3789delA

1 paper

NM_001042492.3

p.S1262_K1263del1

c.3786_3788delTAA

3 papers

NM_001042492.3

p.E1264K

c.3790G>A

2 papers

NM_001042492.3

p.E1264Q

c.3790G>C

1 paper

NM_001042492.3

p.E1264fs

c.3790_3791fs

5 papers

NM_001042492.3

p.E1264*

c.3790G>T

1 paper

NM_001042492.3

p.E1264fs

c.3790_3791fs

1 paper

NM_001042492.3

p.S1262P

c.3784T>C

1 paper

NM_001042492.3

p.S1262fs

c.3784_3785fs

1 paper

NM_001042492.3

p.S1262delFs

c.3785delC