Varaico: Literature-Extracted Genetic Variants

HLTF

129 papers

RefSeq Summary

This gene encodes a member of the SWI/SNF family. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin struct...

Pfam Domains

HIRANaa 60–155UCSCHIRAN domain

SNF2-rel_domaa 243–721UCSCSNF2-related domain

zf-C3HC4_2aa 759–800UCSCZinc finger, C3HC4 type (RING finger)

Helicase_Caa 833–950UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

helicase like transcription factor

HGNC Previous Symbols

SNF2L3; SMARCA3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_003071.4

p.I804T

c.2411T>C

Surrounding Variants

1 paper

NM_003071.4

p.D803Y

c.2407G>T

1 paper

NM_003071.4

p.R801I

c.2402G>T

1 paper

NM_003071.4

p.L809V

c.2425T>G

2 papers

NM_003071.4

p.P814S

c.2440C>T

1 paper

NM_003071.4

p.L817*

c.2450T>G

1 paper

NM_003071.4

p.L817*

c.2450T>A

1 paper

NM_003071.4

p.A818T

c.2452G>A

1 paper

NM_003071.4

p.R819C

c.2455C>T

6 papers

NM_003071.4

p.R819H

c.2456G>A

1 paper

NM_003071.4

p.K823T

c.2468A>C

1 paper

NM_003071.4

p.S832N

c.2495G>A

1 paper

NM_003071.4

p.K834T

c.2501A>C