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.R1875L

c.5624G>T

Surrounding Variants

3 papers

NM_000051.4

p.R1875Q

c.5624G>A

1 paper

NM_000051.4

p.R1875P

c.5624G>C

1 paper

NM_000051.4

p.R1875R

c.5623C>A

1 paper

NM_000051.4

p.R1875fs

c.5623_5624fs

67 papers

NM_000051.4

p.R1875*

c.5623C>T

1 paper

NM_000051.4

p.H1876N

c.5626C>A

1 paper

NM_000051.4

p.H1876P

c.5627A>C

2 papers

NM_000051.4

p.H1876R

c.5627A>G

4 papers

NM_000051.4

p.H1876Q

c.5628C>A

3 papers

NM_000051.4

p.H1876Q

c.5628C>G

1 paper

NM_000051.4

p.L1874F

c.5620C>T

1 paper

NM_000051.4

p.L1874_R1875delFs

c.5621_5624del4