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.R1312T

c.3935G>C

Surrounding Variants

1 paper

NM_000051.4

p.R1312K

c.3935G>A

2 papers

NM_000051.4

p.R1312insFs

c.3935dupG

5 papers

NM_000051.4

p.R1312G

c.3934A>G

1 paper

NM_000051.4

p.R1312*

c.3934A>T

6 papers

NM_000051.4

p.E1313Q

c.3937G>C

1 paper

NM_000051.4

p.E1313insFs

c.3938_3939ins19

3 papers

NM_000051.4

p.E1313fs

c.3937_3938fs

1 paper

NM_000051.4

p.E1313delFs

c.3938delA

3 papers

NM_000051.4

p.E1313fs

c.3937_3938fs

1 paper

NM_000051.4

p.E1313G

c.3938A>G

1 paper

NM_000051.4

p.Q1311L

c.3932A>T

6 papers

NM_000051.4

p.Q1311*

c.3931C>T