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.L2463insFs

c.7389dupA

Surrounding Variants

1 paper

NM_000051.4

p.L2463F

c.7389A>C

1 paper

NM_000051.4

p.L2463F

c.7389A>T

1 paper

NM_000051.4

p.L2463fs

c.7387_7388fs

1 paper

NM_000051.4

p.L2463fs

c.7387_7388fs

3 papers

NM_000051.4

p.F2462L

c.7386C>A

3 papers

NM_000051.4

p.F2462L

c.7386C>G

52 papers

NM_000051.4

p.C2464R

c.7390T>C

1 paper

NM_000051.4

p.C2464_K2465insC

c.7390_7394ins3

1 paper

NM_000051.4

p.C2464fs

c.7390_7391fs

2 papers

NM_000051.4

p.C2464Y

c.7391G>A

1 paper

NM_000051.4

p.F2462_L2463delFs

c.7386_7389del4

3 papers

NM_000051.4

p.F2462L

c.7384T>C