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

2 papers

NM_001042492.3

p.R1396H

c.4187G>A

Surrounding Variants

3 papers

NM_001042492.3

p.F1397delFs

c.4190delT

1 paper

NM_001042492.3

p.F1397_S1401delFs

c.4189_4201del13

2 papers

NM_000267.3

p.Q1374H

c.4122G>C

NM_001042492.3

p.Q1395H

c.4185G>C

2 papers

NM_000267.3

p.Q1374H

c.4122G>T

NM_001042492.3

p.Q1395H

c.4185G>T

1 paper

NM_001042492.3

p.F1397fs

c.4189_4190fs

2 papers

NM_001042492.3

p.P1398delFs

c.4192delC

1 paper

NM_001042492.3

p.Q1395fs

c.4183_4184fs

4 papers

NM_001042492.3

p.Q1395*

c.4183C>T

NM_000267.3

p.Q1374*

c.4120C>T

2 papers

NM_001042492.3

p.Q1395fs

c.4183_4184fs

3 papers

NM_001042492.3

p.P1398_Q1399insC

c.4192_4196ins3

1 paper

NM_001042492.3

p.S1394N

c.4181G>A

1 paper

NM_001042492.3

p.Q1395delFs

c.4183delC