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

4 papers

NM_000051.4

p.Q161H

c.483G>T

Surrounding Variants

1 paper

NM_000051.4

p.Q161Q

c.483G>A

5 papers

NM_000051.4

p.Q161H

c.483G>C

4 papers

NM_000051.4

p.Q161P

c.482A>C

3 papers

NM_000051.4

p.Q161R

c.482A>G

1 paper

NM_000051.4

p.Q161_Q162delFs

c.483_484delGC

6 papers

NM_000051.4

p.Q162*

c.484C>T

1 paper

NM_000051.4

p.Q162L

c.485A>T

1 paper

NM_000051.4

p.Q161fs

c.481_482fs

1 paper

NM_000051.4

p.Q161E

c.481C>G

3 papers

NM_000051.4

p.Q161*

c.481C>T

1 paper

NM_000051.4

p.Q162H

c.486A>T

1 paper

NM_000051.4

p.Q161_Q162del2

c.481_485del6