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.I1256F

c.3766A>T

Surrounding Variants

1 paper

NM_000051.4

p.I1256V

c.3766A>G

2 papers

NM_000051.4

p.I1256T

c.3767T>C

3 papers

NM_000051.4

p.L1255*

c.3764T>A

1 paper

NM_000051.4

p.L1255W

c.3764T>G

1 paper

NM_000051.4

p.I1256M

c.3768T>G

1 paper

NM_000051.4

p.L1255insFs

c.3764_3765insA

3 papers

NM_000051.4

p.P1257delFs

c.3770_3771delCA

3 papers

NM_000051.4

p.L1255V

c.3763T>G

2 papers

NM_000051.4

p.L1255fs

c.3763_3764fs

1 paper

NM_000051.4

p.P1257L

c.3770C>T

4 papers

NM_000051.4

p.H1258N

c.3772C>A

1 paper

NM_000051.4

p.V1254fs

c.3760_3761fs