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.H683Q

c.2049C>G

Surrounding Variants

3 papers

NM_000051.4

p.H683Q

c.2049C>A

1 paper

NM_000051.4

p.Q684delFs

c.2050delC

4 papers

NM_000051.4

p.Q684*

c.2050C>T

1 paper

NM_000051.4

p.Q684fs

c.2050_2051fs

2 papers

NM_000051.4

p.Q684P

c.2051A>C

1 paper

NM_000051.4

p.Q684R

c.2051A>G

1 paper

NM_000051.4

p.H683Y

c.2047C>T

1 paper

NM_000051.4

p.H683delFs

c.2048delA

1 paper

NM_000051.4

p.H683_Q684del2

c.2047_2051del6

2 papers

NM_000051.4

p.Q684H

c.2052G>C

1 paper

NM_000051.4

p.Q684H

c.2052G>T

2 papers

NM_000051.4

p.V682A

c.2045T>C