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.H325N

c.973C>A

Surrounding Variants

1 paper

NM_000051.4

p.H325Y

c.973C>T

2 papers

NM_000051.4

p.H325_I326delFs

c.975_976delTA

2 papers

NM_000051.4

p.H325L

c.974A>T

1 paper

NM_000051.4

p.I326_R329del0

c.977_985del9

2 papers

NM_000051.4

p.S324N

c.971G>A

2 papers

NM_000051.4

p.H325H

c.975T>C

2 papers

NM_000051.4

p.I326V

c.976A>G

1 paper

NM_000051.4

p.I326fs

c.976_977fs

1 paper

NM_000051.4

p.I323M

c.969A>G

3 papers

NM_000051.4

p.I326T

c.977T>C

1 paper

NM_000051.4

p.I326R

c.977T>G

1 paper

NM_000051.4

p.I326I

c.978A>C