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.R13P

c.38G>C

Surrounding Variants

10 papers

NM_000051.4

p.R13H

c.38G>A

5 papers

NM_000051.4

p.R13insFs

c.37_38insAA

1 paper

NM_000051.4

p.R13G

c.37C>G

12 papers

NM_000051.4

p.R13C

c.37C>T

6 papers

NM_000051.4

p.R13R

c.39T>A

1 paper

NM_000051.4

p.R13R

c.39T>C

1 paper

NM_000051.4

p.C12*

c.36C>A

1 paper

NM_000051.4

p.Q14K

c.40C>A

11 papers

NM_000051.4

p.C12_R13insFs

c.36_37insAA

1 paper

NM_000051.4

p.Q14insFs

c.41_42insAA

1 paper

NM_000051.4

p.Q14_L15insG

c.40_44ins3

1 paper

NM_000051.4

p.Q14insFs

c.40_41ins41