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.Q14H

c.42A>T

Surrounding Variants

1 paper

NM_000051.4

p.Q14Q

c.42A>G

8 papers

NM_000051.4

p.L15delFs

c.43delC

2 papers

NM_000051.4

p.Q14R

c.41A>G

1 paper

NM_000051.4

p.L15Fs

c.43delinsCTGGGCAACATAGCGAAACTCTGTCTTTACACAAAATTAAAAAAAAAAFs

1 paper

NM_000051.4

p.L15insFs

c.43_44ins23

2 papers

NM_000051.4

p.L15L

c.43C>T

2 papers

NM_000051.4

p.L15fs

c.43_44fs

1 paper

NM_000051.4

p.Q14K

c.40C>A

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

4 papers

NM_000051.4

p.Q14*

c.40C>T