Varaico: Literature-Extracted Genetic Variants

RFX1

153 papers

RefSeq Summary

This gene encodes a member of the regulatory factor X (RFX) family of transcription factors, which are characterized by a winged-helix DNA-binding domain. The encoded transcription factor contains an ...

Pfam Domains

RFX1_trans_actaa 214–375UCSCRFX1 transcription activation region

RFX_DNA_bindingaa 435–513UCSCRFX DNA-binding domain

BCD_RFXaa 608–897UCSCRFX BCD domain

Gene Aliases

HGNC Name

regulatory factor X1

HGNC Alias Symbol

EF-C

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_002918.5

p.T370A

c.1108A>G

Surrounding Variants

1 paper

NM_002918.5

p.V365V

c.1095C>T

2 papers

NM_002918.5

p.G362S

c.1084G>A

1 paper

NM_002918.5

p.G381E

c.1142G>A

1 paper

NM_002918.5

p.G354S

c.1060G>A

1 paper

NM_002918.5

p.S352T

c.1055G>C

1 paper

NM_002918.5

p.G388G

c.1164C>T

1 paper

NM_002918.5

p.A349T

c.1045G>A

1 paper

NM_002918.5

p.G391D

c.1172G>A

1 paper

NM_002918.5

p.G391_G392del1

c.1173_1175delCCG

1 paper

NM_002918.5

p.G391_G392del2

c.1171_1175del6

1 paper

NM_002918.5

p.P344P

c.1032C>T

1 paper

NM_002918.5

p.G386_G401del0

c.1158_1202del45