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.F746L

c.2238C>G

Surrounding Variants

1 paper

NM_000051.4

p.F746L

c.2238C>A

3 papers

NM_000051.4

p.Q747*

c.2239C>T

1 paper

NM_000051.4

p.Q747fs

c.2239_2240fs

1 paper

NM_000051.4

p.Q747delFs

c.2239delC

1 paper

NM_000051.4

p.F746L

c.2236T>C

1 paper

NM_000051.4

p.F746_K750del5

c.2236_2249del15

1 paper

NM_000051.4

p.Q747H

c.2241G>C

1 paper

NM_000051.4

p.Q747H

c.2241G>T

2 papers

NM_000051.4

p.K748E

c.2242A>G

1 paper

NM_000051.4

p.L745delFs

c.2235delA

1 paper

NM_000051.4

p.F746_K748del3

c.2236_2243del9

1 paper

NM_000051.4

p.K748T

c.2243A>C