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

10 papers

NM_000051.4

p.R785C

c.2353C>T

Surrounding Variants

8 papers

NM_000051.4

p.R785H

c.2354G>A

1 paper

NM_000051.4

p.T784I

c.2351C>T

1 paper

NM_000051.4

p.C786Y

c.2357G>A

1 paper

NM_000051.4

p.C783*

c.2349T>A

1 paper

NM_000051.4

p.L787insFs

c.2359dupT

3 papers

NM_000051.4

p.C786W

c.2358C>G

1 paper

NM_000051.4

p.C783S

c.2348G>C

2 papers

NM_000051.4

p.C783S

c.2347T>A

1 paper

NM_000051.4

p.L782L

c.2346A>G

1 paper

NM_000051.4

p.L782L

c.2346A>T

1 paper

NM_000051.4

p.L787L

c.2361G>A

17 papers

NM_000051.4

p.S788R

c.2362A>C