Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000051.4

p.M946_Y947Splc

c.2839-1G>A

Surrounding Variants

2 papers

NM_000051.4

p.M946_Y947Splc

c.2839-1G>T

1 paper

NM_000051.4

p.M946_Y947Splc

c.2839-2A>G

3 papers

NM_000051.4

p.M946_Y947Splc

c.2839-2A>T

1 paper

NM_000051.4

p.Y947insFs

c.2840dupA

2 papers

NM_000051.4

p.Y947fs

c.2839_2840fs

4 papers

NM_000051.4

p.Y947fs

c.2839_2840fs

2 papers

NM_000051.4

p.Y947C

c.2840A>G

2 papers

NM_000051.4

p.Y947_K952del0

c.2839_2856del18

1 paper

NM_000051.4

p.Y947*

c.2841T>A

1 paper

NM_000051.4

p.Y947*

c.2841T>G

1 paper

NM_000051.4

p.L948L

c.2842C>T

1 paper

NM_000051.4

p.L948P

c.2843T>C