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

1 paper

NM_000051.4

p.S1152delFs

c.3454delT

Surrounding Variants

1 paper

NM_000051.4

p.S1152_V1153del2

c.3454_3458del6

2 papers

NM_000051.4

p.S1152A

c.3454T>G

1 paper

NM_000051.4

p.S1152delFs

c.3455delC

1 paper

NM_000051.4

p.S1152fs

c.3454_3455fs

3 papers

NM_000051.4

p.K1151*

c.3451A>T

1 paper

NM_000051.4

p.S1152insFs

c.3456dupT

12 papers

NM_000051.4

p.R1150T

c.3449G>C

1 paper

NM_000051.4

p.V1153L

c.3457G>C

1 paper

NM_000051.4

p.V1153fs

c.3457_3458fs

3 papers

NM_000051.4

p.R1150I

c.3449G>T

3 papers

NM_000051.4

p.R1150_S1152delFs

c.3450_3454del5

1 paper

NM_000051.4

p.L1154delFs

c.3461delT