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.C1168fs

c.3502_3503fs

Surrounding Variants

1 paper

NM_000051.4

p.C1168S

c.3502T>A

2 papers

NM_000051.4

p.C1168R

c.3502T>C

2 papers

NM_000051.4

p.C1168insFs

c.3503dupG

1 paper

NM_000051.4

p.C1168fs

c.3502_3503fs

2 papers

NM_000051.4

p.I1167M

c.3501C>G

1 paper

NM_000051.4

p.C1168Y

c.3503G>A

1 paper

NM_000051.4

p.C1168S

c.3503G>C

1 paper

NM_000051.4

p.C1168*

c.3504C>A

2 papers

NM_000051.4

p.C1168C

c.3504C>T

1 paper

NM_000051.4

p.E1169_K1170delFs

c.3505_3509del5

1 paper

NM_000051.4

p.I1167T

c.3500T>C

1 paper

NM_000051.4

p.I1167V

c.3499A>G